ACHONDROPLASIA.pptx
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Achondroplasia is the most common cause of short-limb dwarfism. It is caused by a mutation in the FGFR3 gene that leads to a gain of function mutation and constitutive activation of an inhibitory signal. This affects all bones that form by endochondral ossification, leading to relatively short femora and tibiae, genu vara, and characteristic radiographic findings like a horizontal acetabular roof and trumpet bone appearance of the lower femora. The skull vault develops normally since bones forming by membranous ossification are spared.
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achondroplasia.pptx
Achondroplasia is the most common cause of dwarfism, occurring in 1/15,000-17,000 births. It is caused by a mutation in the FGFR3 gene that results in abnormal bone growth. Affected individuals have disproportionate short stature with a large head and short limbs. Complications can include foramen magnum stenosis, spinal stenosis, and bowed legs. Management involves surgery to address neurological or orthopedic issues and physical therapy.
Miscellaneous Affections of Bone
Osteopetrosis, Osteogenesis imperfecta, Paget's Disease and Achondroplasia clinical features, diagnosis, radiological features and management.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Achondroplasia
Achondroplasia is a genetic disorder that causes dwarfism and disproportionate short stature. It results from a mutation in the FGFR3 gene which regulates bone growth. Individuals with achondroplasia have short stature and limbs, with relatively normal trunk and head size, giving them an enlarged head and prominent forehead appearance. Health issues can include recurrent ear infections, spinal stenosis, and difficulty bending joints. While there is no cure, treatment focuses on monitoring growth, preventing obesity, and managing complications through surgery if needed.
Pierre robin syndrome & Achondroplasia
Pierre Robin syndrome is a condition characterized by three components: cleft palate, mandibular micrognathia or retrognathia, and glossoptosis. It is caused by the mechanical theory where cleft palate prevents palatal shelf fusion and mandibular hypoplasia constrains growth, leading to tongue displacement. Achondroplasia is caused by mutations affecting endochondral ossification, leading to disproportionate short stature and limb shortening, large head size, and restricted joint motion. Both conditions are diagnosed based on clinical features and imaging findings, and require multidisciplinary care.
Achondroplasia, pseudoachondroplasia, hypochondroplasia
This document summarizes three conditions - Achondroplasia, Pseudoachondroplasia, and Hypochondroplasia. Achondroplasia is characterized by failure of normal cartilage growth, resulting in short stature and limb abnormalities. Pseudoachondroplasia involves irregular, fragmented epiphyses and flared metaphyses. Hypochondroplasia causes short stature through mild metaphyseal flare and narrowing of the lumbar spine.
Achondroplasia
Achondroplasia is a genetic disorder characterized by abnormal bone growth resulting in short stature, with disproportionately short limbs. Key features include shortening and widening of the long bones, with the proximal segments most affected. Other findings are frontal bossing of the skull, spinal stenosis, recurrent ear infections, and normal intelligence. Diagnosis can be made prenatally by ultrasound or after birth by x-rays showing characteristic bone abnormalities. Treatment may include growth hormone therapy in early childhood, and complications can include spinal stenosis.
Skeletal dysplasia grand round
1. A skeletal dysplasia is a congenital abnormality of bone growth or development that results in structural abnormalities of the bones.
2. Making a diagnosis involves taking a thorough history and physical examination, including measurements of height, limb lengths, and facial features. Radiographs can identify which bones are affected.
3. Achondroplasia is the most common skeletal dysplasia, caused by a mutation in the FGFR3 gene, and is characterized by disproportionate short stature, frontal bossing, trident hands, genu varum, and foramen magnum stenosis.
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achondroplasia.pptx
Achondroplasia is the most common cause of dwarfism, occurring in 1/15,000-17,000 births. It is caused by a mutation in the FGFR3 gene that results in abnormal bone growth. Affected individuals have disproportionate short stature with a large head and short limbs. Complications can include foramen magnum stenosis, spinal stenosis, and bowed legs. Management involves surgery to address neurological or orthopedic issues and physical therapy.
Miscellaneous Affections of Bone
Osteopetrosis, Osteogenesis imperfecta, Paget's Disease and Achondroplasia clinical features, diagnosis, radiological features and management.
Achondroplasia
Achondroplasia is a genetic disorder characterized by disproportionate short stature and limb abnormalities. It results from a mutation on chromosome 4 that causes a defect in bone growth by disrupting endochondral ossification. Individuals with achondroplasia have short stature, an enlarged head, midface hypoplasia, spinal abnormalities, and shortened limbs disproportionately affecting the arms and thighs. Complications can include neurological problems, respiratory issues, and spinal stenosis. While there is no cure, treatment focuses on supportive care, surgery to address orthopedic issues, and in some cases growth hormone therapy.
Achondroplasia
Achondroplasia is a genetic disorder that causes dwarfism and disproportionate short stature. It results from a mutation in the FGFR3 gene which regulates bone growth. Individuals with achondroplasia have short stature and limbs, with relatively normal trunk and head size, giving them an enlarged head and prominent forehead appearance. Health issues can include recurrent ear infections, spinal stenosis, and difficulty bending joints. While there is no cure, treatment focuses on monitoring growth, preventing obesity, and managing complications through surgery if needed.
Pierre robin syndrome & Achondroplasia
Pierre Robin syndrome is a condition characterized by three components: cleft palate, mandibular micrognathia or retrognathia, and glossoptosis. It is caused by the mechanical theory where cleft palate prevents palatal shelf fusion and mandibular hypoplasia constrains growth, leading to tongue displacement. Achondroplasia is caused by mutations affecting endochondral ossification, leading to disproportionate short stature and limb shortening, large head size, and restricted joint motion. Both conditions are diagnosed based on clinical features and imaging findings, and require multidisciplinary care.
Achondroplasia, pseudoachondroplasia, hypochondroplasia
This document summarizes three conditions - Achondroplasia, Pseudoachondroplasia, and Hypochondroplasia. Achondroplasia is characterized by failure of normal cartilage growth, resulting in short stature and limb abnormalities. Pseudoachondroplasia involves irregular, fragmented epiphyses and flared metaphyses. Hypochondroplasia causes short stature through mild metaphyseal flare and narrowing of the lumbar spine.
Achondroplasia
Achondroplasia is a genetic disorder characterized by abnormal bone growth resulting in short stature, with disproportionately short limbs. Key features include shortening and widening of the long bones, with the proximal segments most affected. Other findings are frontal bossing of the skull, spinal stenosis, recurrent ear infections, and normal intelligence. Diagnosis can be made prenatally by ultrasound or after birth by x-rays showing characteristic bone abnormalities. Treatment may include growth hormone therapy in early childhood, and complications can include spinal stenosis.
Skeletal dysplasia grand round
1. A skeletal dysplasia is a congenital abnormality of bone growth or development that results in structural abnormalities of the bones.
2. Making a diagnosis involves taking a thorough history and physical examination, including measurements of height, limb lengths, and facial features. Radiographs can identify which bones are affected.
3. Achondroplasia is the most common skeletal dysplasia, caused by a mutation in the FGFR3 gene, and is characterized by disproportionate short stature, frontal bossing, trident hands, genu varum, and foramen magnum stenosis.
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This document provides an overview of dwarfism (bone dysplasias), including classification, causes, signs and symptoms, radiographic findings, and treatment for various types. It discusses proportionate vs disproportionate dwarfism and classifications based on location and source. Specific types covered include achondroplasia, spondyloepiphyseal dysplasia, chondrodysplasia punctata, Kniest syndrome, metaphyseal chondrodysplasia, multiple epiphyseal dysplasia, and mucopolysaccharidoses. Treatment focuses on managing skeletal deformities and complications.
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Skeletal dysplasia final
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Chapter wise All Notes of First year Basic Civil Engineering.pptx
Chapter wise All Notes of First year Basic Civil Engineering
Syllabus
Chapter-1
Introduction to objective, scope and outcome the subject
Chapter 2
Introduction: Scope and Specialization of Civil Engineering, Role of civil Engineer in Society, Impact of infrastructural development on economy of country.
Chapter 3
Surveying: Object Principles & Types of Surveying; Site Plans, Plans & Maps; Scales & Unit of different Measurements.
Linear Measurements: Instruments used. Linear Measurement by Tape, Ranging out Survey Lines and overcoming Obstructions; Measurements on sloping ground; Tape corrections, conventional symbols. Angular Measurements: Instruments used; Introduction to Compass Surveying, Bearings and Longitude & Latitude of a Line, Introduction to total station.
Levelling: Instrument used Object of levelling, Methods of levelling in brief, and Contour maps.
Chapter 4
Buildings: Selection of site for Buildings, Layout of Building Plan, Types of buildings, Plinth area, carpet area, floor space index, Introduction to building byelaws, concept of sun light & ventilation. Components of Buildings & their functions, Basic concept of R.C.C., Introduction to types of foundation
Chapter 5
Transportation: Introduction to Transportation Engineering; Traffic and Road Safety: Types and Characteristics of Various Modes of Transportation; Various Road Traffic Signs, Causes of Accidents and Road Safety Measures.
Chapter 6
Environmental Engineering: Environmental Pollution, Environmental Acts and Regulations, Functional Concepts of Ecology, Basics of Species, Biodiversity, Ecosystem, Hydrological Cycle; Chemical Cycles: Carbon, Nitrogen & Phosphorus; Energy Flow in Ecosystems.
Water Pollution: Water Quality standards, Introduction to Treatment & Disposal of Waste Water. Reuse and Saving of Water, Rain Water Harvesting. Solid Waste Management: Classification of Solid Waste, Collection, Transportation and Disposal of Solid. Recycling of Solid Waste: Energy Recovery, Sanitary Landfill, On-Site Sanitation. Air & Noise Pollution: Primary and Secondary air pollutants, Harmful effects of Air Pollution, Control of Air Pollution. . Noise Pollution Harmful Effects of noise pollution, control of noise pollution, Global warming & Climate Change, Ozone depletion, Greenhouse effect
Text Books:
1. Palancharmy, Basic Civil Engineering, McGraw Hill publishers.
2. Satheesh Gopi, Basic Civil Engineering, Pearson Publishers.
3. Ketki Rangwala Dalal, Essentials of Civil Engineering, Charotar Publishing House.
4. BCP, Surveying volume 1
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Complications of wound healing like infection, hyperpigmentation of scar, contractures, and keloid formation.
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ACHONDROPLASIA.pptx
- 2. • Clinical presentation Achondroplasia is the most common cause of short-limb dwarfism. Patients are of normal intelligence and motor function, presenting with delayed motor milestones. • Pathology Mutation to the FGFR3 gene (fibroblast growth factor gene 3 ) in achondroplasia is a gain of function mutation with constitutive activation of an inhibitory signal. All bones that form by endochondral ossification are affected. Bones that form by membranous ossification are not affected, thus allowing the skull vault to develop normally.
- 3. Radiographic features Horizontal acetabular roof (decreased acetabular angle), small squared (tombstone or mickey mouse ear) iliac wings and champagne glass type pelvic inlet
- 4. • Rhizomelic dwarfism, with relatively short femora • Bilateral genu vara. • Metaphyseal flaring (widening), most evident at the lower femora, giving trumpet bone type appearance • Relatively long fibulae. • V shaped growth plates, most evident at the upper tibia.
- 5. • The skull vault is enlarged, with small skull base.