International Journal of Pharmaceutical Science Invention (IJPSI) is an international journal intended for professionals and researchers in all fields of Pahrmaceutical Science. IJPSI publishes research articles and reviews within the whole field Pharmacy and Pharmaceutical Science, new teaching methods, assessment, validation and the impact of new technologies and it will continue to provide information on the latest trends and developments in this ever-expanding subject. The publications of papers are selected through double peer reviewed to ensure originality, relevance, and readability. The articles published in our journal can be accessed online.
Oculocutaneous albinism associated with deafness and mental retardationDeepak Chinagi
This document describes a case report of an atypical variant of oculocutaneous albinism associated with deafness and mental retardation in a 25-year-old female patient. The patient presented with generalized hypopigmentation, iris hypopigmentation, diminished vision, photophobia, and was mentally retarded and unable to listen or speak. Testing revealed microcytic hypochromic anemia. Oculocutaneous albinism is a genetic disorder of melanin production that typically does not affect intelligence, but this case presented additional symptoms of deafness and mental retardation. The diagnosis was made clinically and treatment involves correcting refractive errors and protecting the skin from sun exposure.
A Case of Multiple Cranial Nerves Palsy Post Electrocutionijtsrd
This case report describes a rare case of a 53-year-old man developing multiple cranial nerve palsies following an electrocution injury and subsequent infection. After suffering an electrocution injury to his right hand and nose, the man developed a purulent ear discharge from his right ear along with headaches. He was later found to have palsies affecting all the cranial nerves on the right side of his face. Imaging showed skull base osteomyelitis, mastoiditis, and involvement of the right cavernous sinus. Cultures from the ear discharge grew Escherichia coli and Candida albicans. The cranial neuropathies were believed to have resulted from the electrocution injury leading
Dr. Katherine Sims opens the Norrie Disease Association's first international conference with a warm welcome and historical overview of Norrie Disease. (NDA International Conference, 2009)
Velo-Cardio Facial Syndrome (VCFS) is a genetic disorder caused by a deletion of chromosome 22 that occurs in approximately 1 in 2,000 births. It is characterized by cardiac abnormalities, palate issues like cleft palate, developmental delays, and a distinct facial appearance. While there is no cure for VCFS, treatment by specialists in areas like cardiology, speech pathology, and psychology can help manage symptoms. With appropriate care and intervention, most people with VCFS can live productive lives.
Waardenburg Syndrome is an inherited disorder characterized by hearing loss and changes in hair and skin pigmentation. There are four types, with types I and II being most common. It is caused by a dominant gene mutation and symptoms may include deafness, pale eye color, and patchy hair loss. While symptoms are present at birth, diagnosis is usually made in infancy through tests like audiometry and genetic testing. Treatment focuses on managing hearing loss and other symptoms, as there is no cure for the underlying condition.
Hutchinson-Gilford progeria syndrome is a rare premature aging condition characterized by distinctive facial features, alopecia, loss of subcutaneous fat, thin wrinkled skin, stiff joints, and early death often from heart disease. It is caused by a mutation in the lamin A gene. While intelligence is not impaired, affected children experience failure to thrive, stunted growth, and lipodystrophy. Differential diagnoses include other progeroid syndromes. Though most cases are sporadic, the condition is inherited in an autosomal dominant pattern. There is no cure and management focuses on supportive care, but the underlying genetic basis may enable future targeted treatments.
This document discusses a 3-year-old girl with mosaic Down syndrome who presented for a yearly medical checkup. It provides background on the types of Down syndrome, including that mosaicism usually arises from a trisomic zygote with mitotic loss of one chromosome 21. The risks for complications like congenital heart disease and leukemia are discussed. Screening for conditions like thyroid issues and leukemia is recommended due to increased risks for individuals with Down syndrome.
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Ade Wijaya
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS) is a rare, autosomal dominant, neurodegenerative disease characterized by white matter changes and neuroaxonal spheroids in the brain. It typically presents in mid-life with personality changes, cognitive decline, and motor impairments. Magnetic resonance imaging shows white matter lesions spreading from the periventricular areas. The disease progresses rapidly over 6-11 years, leading to death within about a decade of onset. The pathology involves primary axonal damage and secondary demyelination or vice versa. An accurate diagnosis currently requires brain histology as the causal genes remain unknown.
Oculocutaneous albinism associated with deafness and mental retardationDeepak Chinagi
This document describes a case report of an atypical variant of oculocutaneous albinism associated with deafness and mental retardation in a 25-year-old female patient. The patient presented with generalized hypopigmentation, iris hypopigmentation, diminished vision, photophobia, and was mentally retarded and unable to listen or speak. Testing revealed microcytic hypochromic anemia. Oculocutaneous albinism is a genetic disorder of melanin production that typically does not affect intelligence, but this case presented additional symptoms of deafness and mental retardation. The diagnosis was made clinically and treatment involves correcting refractive errors and protecting the skin from sun exposure.
A Case of Multiple Cranial Nerves Palsy Post Electrocutionijtsrd
This case report describes a rare case of a 53-year-old man developing multiple cranial nerve palsies following an electrocution injury and subsequent infection. After suffering an electrocution injury to his right hand and nose, the man developed a purulent ear discharge from his right ear along with headaches. He was later found to have palsies affecting all the cranial nerves on the right side of his face. Imaging showed skull base osteomyelitis, mastoiditis, and involvement of the right cavernous sinus. Cultures from the ear discharge grew Escherichia coli and Candida albicans. The cranial neuropathies were believed to have resulted from the electrocution injury leading
Dr. Katherine Sims opens the Norrie Disease Association's first international conference with a warm welcome and historical overview of Norrie Disease. (NDA International Conference, 2009)
Velo-Cardio Facial Syndrome (VCFS) is a genetic disorder caused by a deletion of chromosome 22 that occurs in approximately 1 in 2,000 births. It is characterized by cardiac abnormalities, palate issues like cleft palate, developmental delays, and a distinct facial appearance. While there is no cure for VCFS, treatment by specialists in areas like cardiology, speech pathology, and psychology can help manage symptoms. With appropriate care and intervention, most people with VCFS can live productive lives.
Waardenburg Syndrome is an inherited disorder characterized by hearing loss and changes in hair and skin pigmentation. There are four types, with types I and II being most common. It is caused by a dominant gene mutation and symptoms may include deafness, pale eye color, and patchy hair loss. While symptoms are present at birth, diagnosis is usually made in infancy through tests like audiometry and genetic testing. Treatment focuses on managing hearing loss and other symptoms, as there is no cure for the underlying condition.
Hutchinson-Gilford progeria syndrome is a rare premature aging condition characterized by distinctive facial features, alopecia, loss of subcutaneous fat, thin wrinkled skin, stiff joints, and early death often from heart disease. It is caused by a mutation in the lamin A gene. While intelligence is not impaired, affected children experience failure to thrive, stunted growth, and lipodystrophy. Differential diagnoses include other progeroid syndromes. Though most cases are sporadic, the condition is inherited in an autosomal dominant pattern. There is no cure and management focuses on supportive care, but the underlying genetic basis may enable future targeted treatments.
This document discusses a 3-year-old girl with mosaic Down syndrome who presented for a yearly medical checkup. It provides background on the types of Down syndrome, including that mosaicism usually arises from a trisomic zygote with mitotic loss of one chromosome 21. The risks for complications like congenital heart disease and leukemia are discussed. Screening for conditions like thyroid issues and leukemia is recommended due to increased risks for individuals with Down syndrome.
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids Ade Wijaya
Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids (HDLS) is a rare, autosomal dominant, neurodegenerative disease characterized by white matter changes and neuroaxonal spheroids in the brain. It typically presents in mid-life with personality changes, cognitive decline, and motor impairments. Magnetic resonance imaging shows white matter lesions spreading from the periventricular areas. The disease progresses rapidly over 6-11 years, leading to death within about a decade of onset. The pathology involves primary axonal damage and secondary demyelination or vice versa. An accurate diagnosis currently requires brain histology as the causal genes remain unknown.
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
1) Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. The main risk factors are increasing age and family history of the disease.
2) There are two abnormal structures associated with Alzheimer's - amyloid plaques and neurofibrillary tangles which are made up of tau protein. These structures are thought to contribute to the death of brain cells but the exact causes are still unknown.
3) Currently there is no cure for Alzheimer's but medications are available to temporarily improve symptoms. Research continues on developing treatments to slow or prevent the disease progression.
Magnetic resonance features of pyogenic brain abscesses and differential diag...Felice D'Arco
The aim of this presentation is to illustrate the potential of magnetic resonance imaging (MRI) in diagnosis, differential diagnosis, treatment planning and evaluation of therapy effectiveness of pyogenic brain abscesses, through the use of morphological (or conventional) and functional (or advanced) sequences.
A 33-year-old female patient presented with complaints of loose teeth and was found to have oligodontia, gingival inflammation, and advanced periodontitis. She had a history of brain fever and meningitis as a child. Imaging found calcification in the basal ganglia consistent with Fahr syndrome. The patient was diagnosed with Fahr syndrome based on her clinical history and imaging findings. She received full-mouth tooth extraction and is undergoing dental rehabilitation.
Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune condition that affects multiple organ systems including the eyes, skin, inner ears, and meninges. It is characterized by four phases - prodromal, acute uveitic, chronic, and chronic-recurrent. The prodromal phase involves neurologic and auditory symptoms. The acute uveitic phase features a diffuse choroiditis that can cause retinal detachments and papillitis. Later phases involve depigmentation of the eyes, skin, and hair. The cause is believed to be a T-cell mediated autoimmune attack against melanocyte antigens.
Subacute sclerosing panencephalitis (SSPE) In Iraqiosrjce
This document summarizes a study of 8 cases of Subacute sclerosing panencephalitis (SSPE) in Iraq. The patients ranged from 7-10 years old. Diagnosis was based on clinical features and detection of measles virus antibodies in cerebrospinal fluid and serum using ELISA and PCR techniques. ELISA showed all 8 patients were positive for measles virus IgG in serum and CSF. PCR also confirmed presence of measles virus genomic DNA in all patients. 5 patients showed evidence of oligoclonal bands in CSF. The study highlights the importance of childhood measles immunization programs in preventing SSPE.
The best treatment to be prescribed for a 10 years old male diagnosed with Dawson's disease is a combination of intraventricular interferon alfa plus oral Isoprinosine.
Dawson's disease is another name for Subacute Sclerosing Panencephalitis (SSPE), which is a progressive brain disorder caused by a defective measles virus. The passage clearly states that a combination of intraventricular interferon alfa plus oral Isoprinosine is currently the best effective treatment available for SSPE. The other options listed are not treatments recommended for this condition.
This document provides an outline and overview of Creutzfeldt-Jakob disease (CJD). It begins with a case presentation of a 42-year-old woman exhibiting symptoms of gait and stance issues, tremors, and cognitive decline. It then defines CJD as a fatal neurodegenerative disorder caused by prions, an abnormal form of a protein normally found in the brain. The document discusses the etiology, modes of transmission including genetic and acquired forms, epidemiology including mortality rates varying by region, pathogenesis involving prion protein conversion and neuronal death, clinical diagnosis challenges, lack of treatment options, and infection control recommendations.
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
this topic is all about deafness and hearing impairment, this is all about the classification of deafness and hearing impairment and the cause language disorder.
This document provides information on neurofibromatosis (NF), including its causes, signs and symptoms, diagnosis, and treatment. Key points include:
- NF1 and NF2 are genetic disorders caused by mutations on chromosomes 17 and 22 respectively.
- Common features of NF1 include café-au-lait spots, neurofibromas, Lisch nodules, and optic pathway gliomas. Features of NF2 include bilateral acoustic neuromas and meningiomas.
- Diagnosis of NF1 requires two or more of the characteristic features, while NF2 requires bilateral vestibular schwannomas or a family history with other features.
- Treatment focuses on management of tumors
This document provides information on neurofibromatosis (NF), including its causes, signs and symptoms, diagnosis, and treatment. Key points include:
- NF1 and NF2 are genetic disorders caused by mutations on chromosomes 17 and 22 respectively.
- Common features of NF1 include café-au-lait spots, freckling, neurofibromas, and Lisch nodules. Features of NF2 include bilateral acoustic neuromas and cataracts.
- Diagnosis of NF1 requires two or more of the clinical criteria such as café-au-lait spots or neurofibromas. NF2 diagnosis requires bilateral vestibular schwannomas or other tumors.
This patient presented with congenital hypoparathyroidism and seizures at 2 months of age. He had severe growth retardation and characteristic facial dysmorphisms including prominent forehead, deep set eyes, microcephaly, thin upper lip, beaked nose, and small hands and feet. Based on these findings he was diagnosed with Sanjad-Sakati Syndrome, a rare autosomal recessive condition characterized by hypoparathyroidism, severe growth issues, intellectual disability, and specific facial features.
This document reports on a case study of an 8-year-old male child diagnosed with Goldenhar syndrome. Goldenhar syndrome is a rare birth defect affecting the development of structures derived from the first and second branchial arches. The child presented with a dermolipoma (fatty growth) in his right eye, preauricular tags on both ears, and facial asymmetry. Examination found no other abnormalities. The dermolipoma was excised and the case highlights the need for multidisciplinary care of patients with Goldenhar syndrome to monitor development.
This document summarizes sensorineural hearing loss (SNHL) in children. It discusses the etiology, epidemiology, and causes of SNHL. For congenital SNHL, it describes genetic causes like autosomal dominant and recessive mutations, as well as non-genetic causes like viral infections and trauma during birth. Acquired SNHL is commonly caused by bacterial meningitis in young children. Ototoxic drugs are another significant cause of SNHL and the document lists several classes of drugs that can damage the inner ear. Imaging plays an important role in evaluating childhood SNHL to identify anomalies and guide treatment.
This document provides definitions and information about idiopathic sudden sensorineural hearing loss (ISSNHL). It discusses the epidemiology, potential causes including viral, vascular, autoimmune and Meniere's disease. It outlines the clinical assessment process including history, examination and investigations. Prognosis factors and treatment approaches are summarized, including steroid therapy options and complications. Standard treatment is oral corticosteroids, though intratympanic injections are gaining popularity for refractory cases to reduce side effects. More research is still needed on efficacy of treatments.
This case report describes a family found to have Heimler's syndrome based on the clinical findings presented. Heimler's syndrome is characterized by sensorineural hearing loss, amelogenesis imperfecta of the teeth, and nail abnormalities. The report describes a father and his two children who presented with these characteristics. This family represents the fifth reported case of Heimler's syndrome in world literature and the first reported case from India. The report reviews the features and previous case reports of Heimler's syndrome.
Approach to Cafe au lait spots in childrenVarsha Shah
This document provides guidance on evaluating and monitoring children with neurocutaneous syndromes and café au lait spots. It discusses several neurocutaneous disorders including neurofibromatosis types 1 and 2, tuberous sclerosis, ataxia telangiectasia, and others. For children presenting with café au lait spots, the provider should consider neurofibromatosis type 1 and monitor for diagnostic criteria such as additional café au lait spots, skinfold freckling, neurofibromas, Lisch nodules, and skeletal or ocular abnormalities. Regular examinations are recommended to monitor for signs of NF1 and potential complications.
This document summarizes genetic causes of hearing loss, including syndromic and non-syndromic forms. It discusses epidemiology, methods of study, specific syndromes (e.g. Alport, Usher, Waardenburg), non-syndromic forms, genes involved, and approaches to evaluation and management.
This document provides an overview of genetic diseases and inheritance patterns. It discusses several types of genetic disorders including single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and mitochondrial inheritance. Specific genetic diseases are described for each category, such as cystic fibrosis, sickle cell anemia, and Alzheimer's disease. The roles of genes, chromosomes, and mitochondria in the development and transmission of genetic traits and diseases are also summarized.
Phenotypic analysis of a case of “3MC syndrome” with review of literatureBIJCROO
3MC syndrome is a very rare entity. Its prevalence is unknown, but most cases are reported from the Middle East.
The first case was reported in 1978 and named as Michels syndrome, and recently, with other three syndromes
together, these syndromes are named as 3MC syndrome. All are autosomal recessive disorders and have been
reported by both consanguineous and non-consanguineous parents. Here, we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Michel syndrome, which is a part of the “3MC syndrome.”
This document discusses four neuro-cutaneous syndromes:
1. Hypomelanosis of Ito, which causes pigmentation abnormalities and limb/facial asymmetry. Management involves tissue expansion and reconstruction.
2. Tuberous sclerosis, a genetic disease causing benign tumors in organs. Symptoms include seizures and intellectual disability.
3. Neurofibromatosis type 1 causes tumors along nerves and skin abnormalities. Symptoms include café au lait spots and neurofibromas.
4. Encephalotrigeminal angiomatosis is not genetic but a vascular development anomaly causing facial angiomas and cerebral calcifications.
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
1) Alzheimer's disease is a progressive brain disorder that destroys memory and thinking skills. The main risk factors are increasing age and family history of the disease.
2) There are two abnormal structures associated with Alzheimer's - amyloid plaques and neurofibrillary tangles which are made up of tau protein. These structures are thought to contribute to the death of brain cells but the exact causes are still unknown.
3) Currently there is no cure for Alzheimer's but medications are available to temporarily improve symptoms. Research continues on developing treatments to slow or prevent the disease progression.
Magnetic resonance features of pyogenic brain abscesses and differential diag...Felice D'Arco
The aim of this presentation is to illustrate the potential of magnetic resonance imaging (MRI) in diagnosis, differential diagnosis, treatment planning and evaluation of therapy effectiveness of pyogenic brain abscesses, through the use of morphological (or conventional) and functional (or advanced) sequences.
A 33-year-old female patient presented with complaints of loose teeth and was found to have oligodontia, gingival inflammation, and advanced periodontitis. She had a history of brain fever and meningitis as a child. Imaging found calcification in the basal ganglia consistent with Fahr syndrome. The patient was diagnosed with Fahr syndrome based on her clinical history and imaging findings. She received full-mouth tooth extraction and is undergoing dental rehabilitation.
Vogt-Koyanagi-Harada (VKH) disease is a systemic autoimmune condition that affects multiple organ systems including the eyes, skin, inner ears, and meninges. It is characterized by four phases - prodromal, acute uveitic, chronic, and chronic-recurrent. The prodromal phase involves neurologic and auditory symptoms. The acute uveitic phase features a diffuse choroiditis that can cause retinal detachments and papillitis. Later phases involve depigmentation of the eyes, skin, and hair. The cause is believed to be a T-cell mediated autoimmune attack against melanocyte antigens.
Subacute sclerosing panencephalitis (SSPE) In Iraqiosrjce
This document summarizes a study of 8 cases of Subacute sclerosing panencephalitis (SSPE) in Iraq. The patients ranged from 7-10 years old. Diagnosis was based on clinical features and detection of measles virus antibodies in cerebrospinal fluid and serum using ELISA and PCR techniques. ELISA showed all 8 patients were positive for measles virus IgG in serum and CSF. PCR also confirmed presence of measles virus genomic DNA in all patients. 5 patients showed evidence of oligoclonal bands in CSF. The study highlights the importance of childhood measles immunization programs in preventing SSPE.
The best treatment to be prescribed for a 10 years old male diagnosed with Dawson's disease is a combination of intraventricular interferon alfa plus oral Isoprinosine.
Dawson's disease is another name for Subacute Sclerosing Panencephalitis (SSPE), which is a progressive brain disorder caused by a defective measles virus. The passage clearly states that a combination of intraventricular interferon alfa plus oral Isoprinosine is currently the best effective treatment available for SSPE. The other options listed are not treatments recommended for this condition.
This document provides an outline and overview of Creutzfeldt-Jakob disease (CJD). It begins with a case presentation of a 42-year-old woman exhibiting symptoms of gait and stance issues, tremors, and cognitive decline. It then defines CJD as a fatal neurodegenerative disorder caused by prions, an abnormal form of a protein normally found in the brain. The document discusses the etiology, modes of transmission including genetic and acquired forms, epidemiology including mortality rates varying by region, pathogenesis involving prion protein conversion and neuronal death, clinical diagnosis challenges, lack of treatment options, and infection control recommendations.
Birth Defects was written for healthcare workers who look after individuals with birth defects, their families, and women who are at increased risk of giving birth to an infant with a birth defect. This book is being used in the Genetics Education Programme which trains healthcare workers in genetic counselling in South Africa. It covers: modes of inheritance, medical genetic counselling, birth defects due to chromosomal abnormalities, single gene defects, teratogens, multifactorial inheritance
this topic is all about deafness and hearing impairment, this is all about the classification of deafness and hearing impairment and the cause language disorder.
This document provides information on neurofibromatosis (NF), including its causes, signs and symptoms, diagnosis, and treatment. Key points include:
- NF1 and NF2 are genetic disorders caused by mutations on chromosomes 17 and 22 respectively.
- Common features of NF1 include café-au-lait spots, neurofibromas, Lisch nodules, and optic pathway gliomas. Features of NF2 include bilateral acoustic neuromas and meningiomas.
- Diagnosis of NF1 requires two or more of the characteristic features, while NF2 requires bilateral vestibular schwannomas or a family history with other features.
- Treatment focuses on management of tumors
This document provides information on neurofibromatosis (NF), including its causes, signs and symptoms, diagnosis, and treatment. Key points include:
- NF1 and NF2 are genetic disorders caused by mutations on chromosomes 17 and 22 respectively.
- Common features of NF1 include café-au-lait spots, freckling, neurofibromas, and Lisch nodules. Features of NF2 include bilateral acoustic neuromas and cataracts.
- Diagnosis of NF1 requires two or more of the clinical criteria such as café-au-lait spots or neurofibromas. NF2 diagnosis requires bilateral vestibular schwannomas or other tumors.
This patient presented with congenital hypoparathyroidism and seizures at 2 months of age. He had severe growth retardation and characteristic facial dysmorphisms including prominent forehead, deep set eyes, microcephaly, thin upper lip, beaked nose, and small hands and feet. Based on these findings he was diagnosed with Sanjad-Sakati Syndrome, a rare autosomal recessive condition characterized by hypoparathyroidism, severe growth issues, intellectual disability, and specific facial features.
This document reports on a case study of an 8-year-old male child diagnosed with Goldenhar syndrome. Goldenhar syndrome is a rare birth defect affecting the development of structures derived from the first and second branchial arches. The child presented with a dermolipoma (fatty growth) in his right eye, preauricular tags on both ears, and facial asymmetry. Examination found no other abnormalities. The dermolipoma was excised and the case highlights the need for multidisciplinary care of patients with Goldenhar syndrome to monitor development.
This document summarizes sensorineural hearing loss (SNHL) in children. It discusses the etiology, epidemiology, and causes of SNHL. For congenital SNHL, it describes genetic causes like autosomal dominant and recessive mutations, as well as non-genetic causes like viral infections and trauma during birth. Acquired SNHL is commonly caused by bacterial meningitis in young children. Ototoxic drugs are another significant cause of SNHL and the document lists several classes of drugs that can damage the inner ear. Imaging plays an important role in evaluating childhood SNHL to identify anomalies and guide treatment.
This document provides definitions and information about idiopathic sudden sensorineural hearing loss (ISSNHL). It discusses the epidemiology, potential causes including viral, vascular, autoimmune and Meniere's disease. It outlines the clinical assessment process including history, examination and investigations. Prognosis factors and treatment approaches are summarized, including steroid therapy options and complications. Standard treatment is oral corticosteroids, though intratympanic injections are gaining popularity for refractory cases to reduce side effects. More research is still needed on efficacy of treatments.
This case report describes a family found to have Heimler's syndrome based on the clinical findings presented. Heimler's syndrome is characterized by sensorineural hearing loss, amelogenesis imperfecta of the teeth, and nail abnormalities. The report describes a father and his two children who presented with these characteristics. This family represents the fifth reported case of Heimler's syndrome in world literature and the first reported case from India. The report reviews the features and previous case reports of Heimler's syndrome.
Approach to Cafe au lait spots in childrenVarsha Shah
This document provides guidance on evaluating and monitoring children with neurocutaneous syndromes and café au lait spots. It discusses several neurocutaneous disorders including neurofibromatosis types 1 and 2, tuberous sclerosis, ataxia telangiectasia, and others. For children presenting with café au lait spots, the provider should consider neurofibromatosis type 1 and monitor for diagnostic criteria such as additional café au lait spots, skinfold freckling, neurofibromas, Lisch nodules, and skeletal or ocular abnormalities. Regular examinations are recommended to monitor for signs of NF1 and potential complications.
This document summarizes genetic causes of hearing loss, including syndromic and non-syndromic forms. It discusses epidemiology, methods of study, specific syndromes (e.g. Alport, Usher, Waardenburg), non-syndromic forms, genes involved, and approaches to evaluation and management.
This document provides an overview of genetic diseases and inheritance patterns. It discusses several types of genetic disorders including single gene inheritance, multifactorial inheritance, chromosomal abnormalities, and mitochondrial inheritance. Specific genetic diseases are described for each category, such as cystic fibrosis, sickle cell anemia, and Alzheimer's disease. The roles of genes, chromosomes, and mitochondria in the development and transmission of genetic traits and diseases are also summarized.
Phenotypic analysis of a case of “3MC syndrome” with review of literatureBIJCROO
3MC syndrome is a very rare entity. Its prevalence is unknown, but most cases are reported from the Middle East.
The first case was reported in 1978 and named as Michels syndrome, and recently, with other three syndromes
together, these syndromes are named as 3MC syndrome. All are autosomal recessive disorders and have been
reported by both consanguineous and non-consanguineous parents. Here, we phenotypically analyzed a case presented with the features of blepharophimosis syndrome associated with craniosynostosis suggestive of Michel syndrome, which is a part of the “3MC syndrome.”
This document discusses four neuro-cutaneous syndromes:
1. Hypomelanosis of Ito, which causes pigmentation abnormalities and limb/facial asymmetry. Management involves tissue expansion and reconstruction.
2. Tuberous sclerosis, a genetic disease causing benign tumors in organs. Symptoms include seizures and intellectual disability.
3. Neurofibromatosis type 1 causes tumors along nerves and skin abnormalities. Symptoms include café au lait spots and neurofibromas.
4. Encephalotrigeminal angiomatosis is not genetic but a vascular development anomaly causing facial angiomas and cerebral calcifications.
This document summarizes several neurocutaneous syndromes including von Hippel-Lindau disease, neurofibromatosis type 1 and 2, tuberous sclerosis complex, Sturge-Weber syndrome, and Bourneville's disease. It describes the characteristic clinical features of each syndrome such as café au lait spots, tumors, hamartomas and visual or neurological disturbances. Diagnosis is based on the presence of specific lesions and symptoms. Screening recommendations are provided for early detection and treatment of complications.
Ectodermal dysplasias (EDs) are a group of inherited disorders that affect two or more ectodermal structures such as hair, teeth, nails, and sweat glands. They are caused by genetic defects that may be inherited or occur spontaneously. EDs are classified based on clinical phenotypes and affected structures. The most common types are hypohidrotic ED (affecting hair, teeth, nails and sweat glands) and hidrotic ED (affecting hair, teeth, and nails). Without proper care, ED patients can experience life-threatening hyperthermia, infections, and failure to thrive. Treatment focuses on managing symptoms and may involve dentures, skin care, eye protection, and environmental thermal
This research proposal aims to study hearing loss among children aged 5-16 years with sickle cell anemia at Ahmadu Bello University Teaching Hospital in Zaria, Nigeria. The researcher provides background on sickle cell disease and reviews literature showing the prevalence of sensorineural hearing loss among children with sickle cell anemia ranges from 3.8-29% in different parts of Nigeria and other countries. Justification is given for the study as routine hearing screening is not part of care for children with sickle cell anemia in Zaria, and the magnitude of hearing loss among this population is unknown. The proposal describes the methodology to be used including audiological tests and statistical analysis to determine prevalence and risk factors of hearing loss
Ellis–Van Creveld Syndrome With Unusal Expression Of Multiple Supernumerary T...iosrjce
IOSR Journal of Dental and Medical Sciences is one of the speciality Journal in Dental Science and Medical Science published by International Organization of Scientific Research (IOSR). The Journal publishes papers of the highest scientific merit and widest possible scope work in all areas related to medical and dental science. The Journal welcome review articles, leading medical and clinical research articles, technical notes, case reports and others.
This document provides an overview of tuberous sclerosis complex (TSC), a genetic disorder characterized by benign tumors that grow in various organs. Some key points:
1. TSC is caused by mutations in either the TSC1 or TSC2 gene and is inherited in an autosomal dominant pattern.
2. Clinical features include facial angiofibromas, epilepsy, and mental retardation known as the "triad" of TSC. Other features are skin lesions, seizures, and tumors in the brain, heart, kidneys, and other organs.
3. Pathology involves benign tumors called tubers that form in the brain and other tissues due to abnormal cell growth. Diagnosis is based
A case of Alport syndrome presented with bilateral anterior lenticonusBIJCROO
Purpose: The aim of this study was to report a rare case of Alport syndrome presented with bilateral anterior
lenticonus in a 16-year-old boy.
Case report: A 16-year-old boy presented with decreased vision, a hearing defect, anemia, and proteinuria. His
best corrected visual acuity was 6/18 in both eyes. Slit lamp biomicroscope showed anterior lenticonus in both
eyes. He was managed by correction of refractive error and urgent referral to a nephrologist.
Conclusion: It is easy to diagnose Alport syndrome clinically, and close communication among ophthalmologists,
otorhinolaryngologists, and nephrologists is crucial for effective management of this syndrome.
Nano-gold for Cancer Therapy chemistry investigatory projectSIVAVINAYAKPK
chemistry investigatory project
The development of nanogold-based cancer therapy could revolutionize oncology by providing a more targeted, less invasive treatment option. This project contributes to the growing body of research aimed at harnessing nanotechnology for medical applications, paving the way for future clinical trials and potential commercial applications.
Cancer remains one of the leading causes of death worldwide, prompting the need for innovative treatment methods. Nanotechnology offers promising new approaches, including the use of gold nanoparticles (nanogold) for targeted cancer therapy. Nanogold particles possess unique physical and chemical properties that make them suitable for drug delivery, imaging, and photothermal therapy.
Travel Clinic Cardiff: Health Advice for International TravelersNX Healthcare
Travel Clinic Cardiff offers comprehensive travel health services, including vaccinations, travel advice, and preventive care for international travelers. Our expert team ensures you are well-prepared and protected for your journey, providing personalized consultations tailored to your destination. Conveniently located in Cardiff, we help you travel with confidence and peace of mind. Visit us: www.nxhealthcare.co.uk
Dr. Tan's Balance Method.pdf (From Academy of Oriental Medicine at Austin)GeorgeKieling1
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Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
Academy of Oriental Medicine at Austin
About AOMA: The Academy of Oriental Medicine at Austin offers a masters-level graduate program in acupuncture and Oriental medicine, preparing its students for careers as skilled, professional practitioners. AOMA is known for its internationally recognized faculty, award-winning student clinical internship program, and herbal medicine program. Since its founding in 1993, AOMA has grown rapidly in size and reputation, drawing students from around the nation and faculty from around the world. AOMA also conducts more than 20,000 patient visits annually in its student and professional clinics. AOMA collaborates with Western healthcare institutions including the Seton Family of Hospitals, and gives back to the community through partnerships with nonprofit organizations and by providing free and reduced price treatments to people who cannot afford them. The Academy of Oriental Medicine at Austin is located at 2700 West Anderson Lane. AOMA also serves patients and retail customers at its south Austin location, 4701 West Gate Blvd. For more information see www.aoma.edu or call 512-492-303434.
The Children are very vulnerable to get affected with respiratory disease.
In our country, the respiratory Disease conditions are consider as major cause for mortality and Morbidity in Child.
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Gene therapy can be broadly defined as the transfer of genetic material to cure a disease or at least to improve the clinical status of a patient.
One of the basic concepts of gene therapy is to transform viruses into genetic shuttles, which will deliver the gene of interest into the target cells.
Safe methods have been devised to do this, using several viral and non-viral vectors.
In the future, this technique may allow doctors to treat a disorder by inserting a gene into a patient's cells instead of using drugs or surgery.
The biggest hurdle faced by medical research in gene therapy is the availability of effective gene-carrying vectors that meet all of the following criteria:
Protection of transgene or genetic cargo from degradative action of systemic and endonucleases,
Delivery of genetic material to the target site, i.e., either cell cytoplasm or nucleus,
Low potential of triggering unwanted immune responses or genotoxicity,
Economical and feasible availability for patients .
Viruses are naturally evolved vehicles that efficiently transfer their genes into host cells.
Choice of viral vector is dependent on gene transfer efficiency, capacity to carry foreign genes, toxicity, stability, immune responses towards viral antigens and potential viral recombination.
There are a wide variety of vectors used to deliver DNA or oligo nucleotides into mammalian cells, either in vitro or in vivo.
The most common vector system based on retroviruses, adenoviruses, herpes simplex viruses, adeno associated viruses.
Pictorial and detailed description of patellar instability with sign and symptoms and how to diagnose , what investigations you should go with and how to approach with treatment options . I have presented this slide in my 2nd year junior residency in orthopedics at LLRM medical college Meerut and got good reviews for it
After getting it read you will definitely understand the topic.
Breast cancer: Post menopausal endocrine therapyDr. Sumit KUMAR
Breast cancer in postmenopausal women with hormone receptor-positive (HR+) status is a common and complex condition that necessitates a multifaceted approach to management. HR+ breast cancer means that the cancer cells grow in response to hormones such as estrogen and progesterone. This subtype is prevalent among postmenopausal women and typically exhibits a more indolent course compared to other forms of breast cancer, which allows for a variety of treatment options.
Diagnosis and Staging
The diagnosis of HR+ breast cancer begins with clinical evaluation, imaging, and biopsy. Imaging modalities such as mammography, ultrasound, and MRI help in assessing the extent of the disease. Histopathological examination and immunohistochemical staining of the biopsy sample confirm the diagnosis and hormone receptor status by identifying the presence of estrogen receptors (ER) and progesterone receptors (PR) on the tumor cells.
Staging involves determining the size of the tumor (T), the involvement of regional lymph nodes (N), and the presence of distant metastasis (M). The American Joint Committee on Cancer (AJCC) staging system is commonly used. Accurate staging is critical as it guides treatment decisions.
Treatment Options
Endocrine Therapy
Endocrine therapy is the cornerstone of treatment for HR+ breast cancer in postmenopausal women. The primary goal is to reduce the levels of estrogen or block its effects on cancer cells. Commonly used agents include:
Selective Estrogen Receptor Modulators (SERMs): Tamoxifen is a SERM that binds to estrogen receptors, blocking estrogen from stimulating breast cancer cells. It is effective but may have side effects such as increased risk of endometrial cancer and thromboembolic events.
Aromatase Inhibitors (AIs): These drugs, including anastrozole, letrozole, and exemestane, lower estrogen levels by inhibiting the aromatase enzyme, which converts androgens to estrogen in peripheral tissues. AIs are generally preferred in postmenopausal women due to their efficacy and safety profile compared to tamoxifen.
Selective Estrogen Receptor Downregulators (SERDs): Fulvestrant is a SERD that degrades estrogen receptors and is used in cases where resistance to other endocrine therapies develops.
Combination Therapies
Combining endocrine therapy with other treatments enhances efficacy. Examples include:
Endocrine Therapy with CDK4/6 Inhibitors: Palbociclib, ribociclib, and abemaciclib are CDK4/6 inhibitors that, when combined with endocrine therapy, significantly improve progression-free survival in advanced HR+ breast cancer.
Endocrine Therapy with mTOR Inhibitors: Everolimus, an mTOR inhibitor, can be added to endocrine therapy for patients who have developed resistance to aromatase inhibitors.
Chemotherapy
Chemotherapy is generally reserved for patients with high-risk features, such as large tumor size, high-grade histology, or extensive lymph node involvement. Regimens often include anthracyclines and taxanes.
Nutritional deficiency Disorder are problems in india.
It is very important to learn about Indian child's nutritional parameters as well the Disease related to alteration in their Nutrition.
Giloy in Ayurveda - Classical Categorization and SynonymsPlanet Ayurveda
Giloy, also known as Guduchi or Amrita in classical Ayurvedic texts, is a revered herb renowned for its myriad health benefits. It is categorized as a Rasayana, meaning it has rejuvenating properties that enhance vitality and longevity. Giloy is celebrated for its ability to boost the immune system, detoxify the body, and promote overall wellness. Its anti-inflammatory, antipyretic, and antioxidant properties make it a staple in managing conditions like fever, diabetes, and stress. The versatility and efficacy of Giloy in supporting health naturally highlight its importance in Ayurveda. At Planet Ayurveda, we provide a comprehensive range of health services and 100% herbal supplements that harness the power of natural ingredients like Giloy. Our products are globally available and affordable, ensuring that everyone can benefit from the ancient wisdom of Ayurveda. If you or your loved ones are dealing with health issues, contact Planet Ayurveda at 01725214040 to book an online video consultation with our professional doctors. Let us help you achieve optimal health and wellness naturally.
1. International Journal of Pharmaceutical Science Invention
ISSN (Online): 2319 – 6718, ISSN (Print): 2319 – 670X
www.ijpsi.org Volume 3 Issue 4‖ April 2014 ‖ PP.18-22
www.ijpsi.org 18 | P a g e
Syndromic Deafness – Variant of Waardenburg syndrome
1,
Dr. Basavaraj Belaldavar (MS. ENT),
2,
Dr. Vini Balakrishnan (PG in ENT)
1, 2,
J. N Medical College KLE University Belgaum
ABSTRACT: Childhood deafness is quite bothersome and a common problem. EBM documents that serious
hearing impairment is found in one in 800 newborns. Amongst the 50 percent of permanent childhood deafness,
30 percent is syndromic and is thought to be because of abnormal genetic makeup. Syndromic cases of deafness
are more accurately diagnosed by the associated additional features of the syndrome. Waardenburg syndrome is
a rare, autosomally inherited disorder with distinct clinical manifestations of dystopia canthorum, white
forelock, congenital hearing loss and heterochromia iridis. Herewith, we are reporting 2 siblings who presented
with deaf mutism and with clinically significant notable variations suggestive of a rare presentation of type 1
and type 2 Waardenburg syndrome in the same family.
KEY WORDS: Waardenburg syndrome, deaf mutism, syndromic deafness
I. INTRODUCTION:
Hearing loss is the most common sensory deficit in humans. Hereditary deafness is genetically a highly
heterogeneous disease with many different genes responsible for auditory dysfunction. To complicate things
further, different mutation in one gene can cause variable phenotype. Congenital hearing loss occurs with a
prevalence of about 1-3/1000. About 60% of prelingual deafness is attributed to genetic defects. Among
hereditary hearing impairment, 15-30% are syndromic, whereas the vast majority are non-syndromic (70%).1
Waardenburg syndrome (WS) is a rare, autosomally inherited and genetically heterogenous disorder of neural
crest cell derived tissues. The prevalence figures vary from 1:20,000 to 1:40,000.2
The syndrome is named after
a Dutch ophthalmologist and geneticist, Petrus Johannes Waardenburg, who in 1951, described a syndrome
comprising of six characteristic features - lateral displacement of the medial canthi and lacrimal punctae, broad
and high nasal root, hypertrichosis of medial part of eyebrows, partial or total heterochromia iridis, white
forelock and congenital deaf-mutism. Since then, four subtypes (I to IV) with variable penetrance and gene
expression of different clinical features have been described: Type 1 with dystopia canthorum; Type 2 without;
Type 3 (Klein-Waardenburg syndrome),which is similar to type 1 and includes upper limb abnormalities; and
type 4 (Waardenburg-Shah syndrome) which is type 2 with Hirschsprung disease.1
WS accounts for about 2 to
5% cases of congenital deafness.3
WS 1 and 2 are autosomal dominant inherited in most cases, WS 3 is usually
sporadic, but when it occurs in families, inheritance is autosomal dominant and WS 4 is autosomal recessive in
inheritance. Waardenburg syndrome can be diagnosed easily in the first few months of life because of prominent
phenotypic features. Earlier diagnosis means a more successful rehabilitation of hearing.
We report 2 siblings who presented to us with deaf mutism and typical clinical features suggesting a
rare presentation of Type 1 and Type 2 Waardenburg syndrome in the same family.
II. CASE REPORT:
Case 1:
A 4 year old boy (proband) presented to us with complaints of inability to respond to sounds and
inability to speak since birth. He was born out of a second degree consanguineous marriage at full term after an
uneventful pregnancy. Neither of the parents were affected. Examination of child revealed deaf mutism with no
response to clap test. Physical examination revealed a white forelock. There was an area of hypopigmentation of
skin (congenital leukoderma) over the midline of forehead, extending to root, bridge and dorsum of nose.
Hypopigmentation and flaring of medial eyebrows and hypopigmentation of bilateral upper eyelashes was also
noted. Both his eyes showed complete iris hypopigmentation (sapphire blue eyes)(Fig 1). In addition, he had
dystopia canthorum and broad nasal root(Fig 2). Fundus examination revealed generalised hypopigmentation in
both eyes. Interestingly, the point to be noted in this case is the obvious presence of frontal bossing (Fig 3).
Association of frontal bossing has been reported only once in literature.4
Routine laboratory investigations and
clinical systemic examination were within normal limits. The child’s hearing was unresponsive to pure tone
audiometry investigation. Auditory brainstem response demonstrated sensorineural hearing loss.
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Case 2:
A 6 year old brother of the proband was also found to have congenital deaf mutism. Examination
revealed broad nasal root with wide intercanthal distance. His right eye showed complete iris hypopigmentation
and left eye showed normal colored iris with segmental iris hypopigmentation (Fig. 4). There was no dystopia
canthorum or medial eyebrow flare. Fundus examination showed decrease in retinal pigmentation with focal
hypopigmentation lesion in both eyes. No other abnormalities such as, hair or skin pigmentation was found.
Auditory brainstem response revealed severe degree sensorineural deafness with hearing threshold of 110 dB in
Right ear and profound degree hearing loss in Left ear (Fig. 5). Due to the absence of dystopia canthorum, this
child was diagnosed as Waardenburg Type 2, whereas case 1, with dystopia canthorum was diagnosed as
Waardenburg Type 1.
III. DISCUSSION:
WS is a dominantly inherited example of auditory pigmentary syndrome with patchy depigmentation of
skin, hair, eyes or stria vascularis of cochlea. Both, the auditory and pigmentary could be explained by a failure
of proper melanocyte differentiation. There is no requirement for melanin in the cochlea but in the absence of
melanocytes, the stria is abnormally thin, no endocochlear potential is generated and Reissner’s membrane
collapses leading to destruction of Organ of Corti leading to sensorineural hearing loss. With the exception of
those in the retina, melanocytes are derived from the embryonic neural crest. Other tissues derived from the
neural crest that are involved in WS1 and the rarer WS3 and WS4 variants include the frontal bone, limb
muscles, and enteric ganglia respectively.5
Five different genes on 5 different chromosomes have been identified. The genetics of WS highlight
the fact that one phenotypic syndrome can be caused by mutations in more than one gene. WS1 and WS3 are
associated with PAX-3 gene mutation on chromosome 2q37. PAX-3 is a DNA binding protein that is important
in determining the fate of neural crest cells in the developing nervous system. WS2 is associated with mutation
of MITF gene (Microphthalmia Transcription Factor Gene on chromosome 3p). In type 4, 3 different genes are
implicated: EDN3, EDNRB and SOX10. EDN3 stimulates the proliferation and melanogenesis of neural crest
cells. An essential role for EDNRB is postulated in the normal development of two crest neural crest cell
derived cell lineages, epidermal melanocytes and enteric neurons. SOX10 belongs to the family of transcription
factors that bind DNA and regulate its transcription.1
Diagnostic criteria for Waardenburg syndrome types 1 and 2: Table 1
Diagnosis in our cases:
In our report, case1 satisfies all the variables in the criteria for Waardenburg type1 which occurs very
rarely.6
In the first report by Waardenburg, only 6 out of 178 of his cases had all the abnormalities of the
syndrome.4
Case 2 satisfies 3 major criteria and 1 minor criteria with absence of dystopia canthorum and fits into the
diagnosis for Waardenburg type2.
Sensorineural hearing loss and heterochromia iridum are the two most characteristic features of WS2. Both are
more common in WS2 than WS1. White forelock and leukoderma are both more common in WS1 than in WS.2
Dystopia canthorum: (Fig 5)
Dystopia canthorum is the most penetrant feature of WS1, being present in 90% of those affected.5
It is
diagnosed clinically by a variety of indices of which the best is the W index, developed by Arias and Mota.7
The W index for our cases were 2.11 for case 1(a=37, b=60, c=92) and 1.88 for case 2(a=30, b=53, c=80), thus
excluding dystopia canthorum in case 2.
Eye colour:
Iris heterochromia maybe complete or partial. In complete herochromia, each iris is a different colour,
while in partial heterochromia, sharply demarcated areas of normal and abnormal iris colours exist. Hypoplastic
blue irises are associated with severe to profound hearing loss and more common in WS1 than in WS2 as is seen
in our first case.5
Hypoplastic blue eyes is more closely associated with WS1 (15-18%) than WS2 (3-23%) and
Heterochromia iridis is more closely associated with WS2 (42-54%) than WS1 (15-31%).2
3. Syndromic Deafness – Variant of Waardenburg syndrome
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White forelock:
A distinctive white forelock is usually seen in the midline, but maybe elsewhere in the head. It may be
present from birth or appear later, usually in the teens, when it is considered to represent premature greying
(defined by the Waardenburg Consortium as predominance of white hair appearing before the age of 30 years).
Pigmentation defects can affect the eyebrows and eyelashes as is demonstrated in our first case. White forelock
is more strongly seen in type 1 (43-48%) than type (2 16-23%).2
Skin signs:
Hypopigmentation of the skin is congenital and maybe found on the face, trunk or limbs.5
It may be
associated with an adjacent white forelock as seen in case 1.
Hearing:
The hearing loss in WS is sensorineural, congenital and usually non-progressive. It varies in severity
from slight to profound. In our study, case 1 demonstrated profound hearing loss, while case 2 showed severe
degree hearing loss. Case 2 had a hearing threshold of 110db in right ear and thus the child was rehabilitated
with hearing aid.
CONCLUSION:
The presentation of this article is undertaken to enlighten a rare presentation of a rare disease. This
study brings light to the possibility of 2 types of Waardenburg syndrome (WS1 and WS2) in the same family
with no family history of the disease. The association of frontal bossing with WS maybe explained by
development of some of the craniofacial skeletal tissue by neural crest cells, but the reason for the rarity of this
feature in Waardenburg syndrome is yet to be explained. 8
The peculiar features of the syndrome helps in early
diagnosis and therefore, early hearing rehabilitation may lighten the stress and helps in rehabilitation of these
patients in society for equalization of opportunities and social integration.
Figure 1: Bilateral hypoplastic blue iridis
Figure 2: White forelock , dystopia canthorum, broad nasal root, hypoplastic nasal alae, medial eyebrow flare,
hypopigmentation over forehead and dorsum of nose and hypopigmentation of medial eyebrows
Figure 3: Frontal bossing
4. Syndromic Deafness – Variant of Waardenburg syndrome
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Figure 4: Heterochromia iridis
Figure 5: Auditory brainstem response for Case 2 revealed severe degree sensorineural deafness with hearing
threshold of 110 dB in Right ear and profound degree hearing loss in Left ear.
Diagnostic criteria for WS 1 : 2 major or 1 major + 2 minor criteria
Diagnostic criteria for WS 2 : 2 major features. The major features are as in the list below except for exclusion
of dystopia canthorum and inclusion of premature greying
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REFERANCES:
[1]. Gurtler N, Lalwani A. K. Etiology of syndromic and nonsyndromic sensorineural hearing loss.
Otolaryngol Clin N Am. 35 (2002) 891-908.
[2]. Milunsky J. Waardenburg Syndrome Type I, Gene Reviews 1993-2001 Jul 30.
[3]. Nayak CS, Isaacson G. Worldwide distribution of Waardenburg syndrome. Ann Otol Rhinol Laryngol.
2003 Sep; 112 :817-20.
[4]. C. H. Tay. Waardenburg's syndrome and familial periodic paralysis. Postgrad Med J. 1971 June;
47(548): 354–360.
[5]. Read AP, Newton VE (1997) Waardenburg syndrome. J Med Genet 34:656-65.
[6]. Ghosh SK, Bandyopadhyay D, Ghosh A, Biswas SK, Mandal RK. Waardenburg syndrome: A report of
three cases. Indian J Dermatol Venereol Leprol 2010;76:550.
[7]. Arias S, Mota M. Apparent non-penetrance for dystopia in Waardenburg syndrome type I, with some
hints in the diagnosis of dystopia canthorum. J Genet Hum 1978;26:103-31.
[8]. Bondurand N et al. Deletions at the SOX10 Gene Locus Cause Waardenburg Syndrome Types 2 and 4.
Am. J. Hum. Genet. 2007;81:1169–1185.