Congenital skeletal dysplasia
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This document discusses various congenital skeletal anomalies and dysplasias that can occur. It focuses on abnormalities of the upper limbs like adactyly and amelia. For the lower limb, it describes developmental dysplasia of the hip, proximal femoral focal deficiency, and idiopathic coxa vara of childhood. It provides details on diagnosing and imaging DDH, including the use of ultrasound to measure Graf's angles in infants and evaluating the acetabular angle on plain films in older children. Other conditions mentioned include Sprengel deformity, radial defects, polydactyly, club foot, spina bifida, and scoliosis.
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FETAL SKELETAL SYSTEM .
normal,basic paramters
and algorithms
fetal Skeletal Dysplasia
Thanatophoric Dwarfism
• Achondroplastic Dysplasia
• Osteogenesis Imperfecta
• Trisomy 18
• Meckel- Gruber Syndrome
• Down Syndrome
Fetal foot length
clavicular aplasia, hypoplasia
Hypoplastic thorax
•thanatophoric dysplasia,
•achondrogenesis,
•hypophosphotasia,
•camptomelic dysplasia,
•chondroectodermal dysplasia,
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Hypoplastic scapula
Platyspondyly
Jarcho-Levin syndrome
Hemivertebra and block vertebra
OI fetus
Chest hypoplasia
micrognathia,
•short upper lip,
•abnormally shaped ears,
•frontal bossing,
•cloverleaf skull.
•brachycephaly (anteroposterior shortening of the head),
•scapocephaly (lateral flattening of the head), and
craniosynostoses (premature fusion of the sutures),
hypertelorism
micropathia
Clover leaf skull
Thanatophoric Dysplasia
Osteogenesis Imperfecta
Chondrodysplasia Punctata
Diastrophic Dysplasia
Achondrogenesis
Achondroplastic Dysplasia
Achondroplasia
Acrocephalopolysyndactyly
Amyoplasia
Atelosteogenesis
micrognathia
ASPHYXIATING THORACIC DYSTROPHY
Campomelic dysplasia
Seckel Syndrome
Cleidocranial dysostosls
ARTHROGRYPOSIS
Clubfoot
Straight knee joints
FETAL AKINESIA DEFORMATION
SEQUENCE (FADS)
• Hypophosphatasia
Short-Rib Polydactyly Syndrome
Mimics of Skeletal Dysplasias
Chronic Intervillous Histiocytosis
Focal anomalies upper limb
Shortened fetal humerus
Aneuopliody syndromic
• Down syndrome:
• Non-aneuopliody syndromic
• Fetal skeletal dysplasia
• non syndromic
• IUGR
Clinodactyly
Syndactyly
Clenched Hand
A fetal akinesia sequence (FAS)
Camptodactyly
•
Fetal club hand deformity
pre-axial polydactyly:
post-axial polydactyly:
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Ectrodactyly
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Congenital constriction band
Sequence
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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.
Presentation1, radiological imaging of developmental dysplasia of the hip joint.
Developmental dysplasia of the hip (DDH) is an abnormal development of the hip joint where the femoral head does not properly fit into the acetabulum. It is more common in females and with certain risk factors like breech presentation. Ultrasound is used to evaluate the hip in infants under 6 months by measuring angles like the alpha angle. Once the femoral epiphysis ossifies around 6 months, plain x-rays are used which analyze features like the acetabular angle and Shenton's line to diagnose DDH. DDH can lead to late complications like osteoarthritis if not treated properly.
Develompmental_dysplasia_of_the_hip_2022
Developmental dysplasia of the hip (DDH) is a partial or complete displacement of the femoral head from the acetabular cavity present since birth. Risk factors include being female, a first born, or having a family history. Clinical features in infants include positive Ortolani's and Barlow's tests, while features in older children and adults include a waddling gait, limb length discrepancy, and decreased hip range of motion. Radiographs are used to assess parameters like the acetabular index and femoral head position to diagnose and monitor DDH at various stages.
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FETAL SKELETAL SYSTEM .
normal,basic paramters
and algorithms
fetal Skeletal Dysplasia
Thanatophoric Dwarfism
• Achondroplastic Dysplasia
• Osteogenesis Imperfecta
• Trisomy 18
• Meckel- Gruber Syndrome
• Down Syndrome
Fetal foot length
clavicular aplasia, hypoplasia
Hypoplastic thorax
•thanatophoric dysplasia,
•achondrogenesis,
•hypophosphotasia,
•camptomelic dysplasia,
•chondroectodermal dysplasia,
•osteogenesis imperfecta,
•short-rib polydactyly
•lead to pulmonary hypoplasia,.
Hypoplastic scapula
Platyspondyly
Jarcho-Levin syndrome
Hemivertebra and block vertebra
OI fetus
Chest hypoplasia
micrognathia,
•short upper lip,
•abnormally shaped ears,
•frontal bossing,
•cloverleaf skull.
•brachycephaly (anteroposterior shortening of the head),
•scapocephaly (lateral flattening of the head), and
craniosynostoses (premature fusion of the sutures),
hypertelorism
micropathia
Clover leaf skull
Thanatophoric Dysplasia
Osteogenesis Imperfecta
Chondrodysplasia Punctata
Diastrophic Dysplasia
Achondrogenesis
Achondroplastic Dysplasia
Achondroplasia
Acrocephalopolysyndactyly
Amyoplasia
Atelosteogenesis
micrognathia
ASPHYXIATING THORACIC DYSTROPHY
Campomelic dysplasia
Seckel Syndrome
Cleidocranial dysostosls
ARTHROGRYPOSIS
Clubfoot
Straight knee joints
FETAL AKINESIA DEFORMATION
SEQUENCE (FADS)
• Hypophosphatasia
Short-Rib Polydactyly Syndrome
Mimics of Skeletal Dysplasias
Chronic Intervillous Histiocytosis
Focal anomalies upper limb
Shortened fetal humerus
Aneuopliody syndromic
• Down syndrome:
• Non-aneuopliody syndromic
• Fetal skeletal dysplasia
• non syndromic
• IUGR
Clinodactyly
Syndactyly
Clenched Hand
A fetal akinesia sequence (FAS)
Camptodactyly
•
Fetal club hand deformity
pre-axial polydactyly:
post-axial polydactyly:
central polydactyly
Ectrodactyly
Ectrodactyly (split hands or feet).
Lobster claw
Congenital constriction band
Sequence
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Mesomelia
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Acquired Bone DeformitiesDepartment of Orthopaedics & Trauma, Faculty of Medicine / King AbdulAziz University
The document discusses acquired bone deformities, defining them as deformities that develop after birth in response to environmental factors rather than being congenital or genetic. It describes two main types of acquired bone deformities - torsional deformities, where the bone is twisted, and angular deformities, where the bone is angulated in the sagittal or coronal plane. Common causes of acquired bone deformities include trauma, infection, tumors, and rickets. The treatment involves addressing the underlying cause, surgical correction if needed, supportive measures like bracing, and physical/occupational therapy. An example case of bowed legs in a child is presented and the approach is outlined.Skeletal dysplasias
This document provides an overview of skeletal dysplasias, including their definition, pathogenesis, classification, and examples of some specific dysplasias. It defines skeletal dysplasias as disorders affecting bone and cartilage growth and development. The document discusses Achondroplasia, the most common form of dwarfism caused by mutations in FGFR3; Hypochondroplasia, a milder form also caused by FGFR3 mutations; and Kniest Dysplasia and Spondyloepiphyseal Dysplasia, which involve mutations in collagen genes and affect vertebrae and epiphyses. It provides details on clinical features, radiographic findings, complications, and management of these conditions
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.
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ACHONDROPLASIA -CASE REPORT & REVIEW OF LITERATURE/ dental implant courses
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Radiological approach to Congenital skeletal dysplasia
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Sonographic evaluation of msk dysplasia Dr. Muhammad Bin Zulfiqar
Sonographic evaluation of msk dysplasia Dr. Muhammad Bin Zulfiqar
Achondroplasia, Hypochondroplasia and Spondyloepiphyseal Dysplasia
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Similar to Congenital skeletal dysplasia
Presentation1, radiological imaging of developmental dysplasia of the hip joint.
Developmental dysplasia of the hip (DDH) is an abnormal development of the hip joint where the femoral head does not properly fit into the acetabulum. It is more common in females and with certain risk factors like breech presentation. Ultrasound is used to evaluate the hip in infants under 6 months by measuring angles like the alpha angle. Once the femoral epiphysis ossifies around 6 months, plain x-rays are used which analyze features like the acetabular angle and Shenton's line to diagnose DDH. DDH can lead to late complications like osteoarthritis if not treated properly.
Develompmental_dysplasia_of_the_hip_2022
Developmental dysplasia of the hip (DDH) is a partial or complete displacement of the femoral head from the acetabular cavity present since birth. Risk factors include being female, a first born, or having a family history. Clinical features in infants include positive Ortolani's and Barlow's tests, while features in older children and adults include a waddling gait, limb length discrepancy, and decreased hip range of motion. Radiographs are used to assess parameters like the acetabular index and femoral head position to diagnose and monitor DDH at various stages.
DDH
This document discusses developmental dysplasia of the hip (DDH). It begins with an introduction to DDH, covering the etiology, normal hip development, pathoanatomy, clinical presentation, investigations, treatment, and complications. Key points include that DDH has multifactorial causes, involves abnormalities in the femoral head's relationship to the acetabulum, and is diagnosed through physical exams and imaging tests like ultrasound and x-rays. Left untreated, DDH can lead to secondary pathological changes in hip structure and function.
Developmental Dysplasia of Hip Radiological findings
Developmental Dysplasia of Hip
Radiological findings
Graf classifications
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ULTRASOUND & DOPPLER DURING PREGNANCY.pptx
This document provides an overview of ultrasound in pregnancy and summarizes key information assessed during routine first, second, and third trimester ultrasounds. It discusses using ultrasound to confirm viability, number of embryos, fetal anatomy and growth. It also describes evaluating for anomalies like Down syndrome, spina bifida and heart defects. Emergency ultrasound applications are outlined for bleeding, pain and preterm labor. Specific placental pathologies like placenta previa and abruption are also detailed. In summary, the document serves as a guide for utilizing ultrasound safely and effectively during routine prenatal care and high-risk obstetric situations.
DDH
Developmental dysplasia of the hip (DDH) is a condition where the hip joint is not properly formed or does not properly develop during fetal life or infancy. It ranges from shallow hip sockets to partial or complete dislocation of the hip joint. The goals of treatment are to reduce the femoral head into the acetabulum and maintain a concentric reduction to allow for normal hip development. Treatment depends on the age of presentation and severity, and may include use of a Pavlik harness, hip spica cast, closed or open surgical reduction, and osteotomies. Early diagnosis and treatment generally lead to better outcomes.
Ddh
Developmental dysplasia of the hip (DDH) is a condition where the hip joint is not properly formed or does not properly develop during fetal life or infancy. It ranges from shallow hip sockets to partial or complete dislocation of the hip joint. The goals of treatment are to reduce the femoral head into the acetabulum and maintain a concentric reduction to allow for normal hip development. Treatment depends on the age of presentation and severity, and may include use of a Pavlik harness, hip spica cast, closed or open surgical reduction, and osteotomies. Early diagnosis and treatment generally lead to better outcomes.
Developmental dysplasia of hip
This document discusses developmental dysplasia of the hip (DDH), also known as congenital hip dysplasia. DDH ranges from shallow acetabulum to complete hip dislocation. It is more common in females and breech babies. Clinical signs include leg length discrepancy, limited hip abduction, and Trendelenberg gait. Ultrasound is the best initial imaging method, using the alpha and beta angles to assess acetabular depth and femoral head position. X-rays become more useful after age 4-7 months as ossification centers appear. Early diagnosis and treatment are important to prevent long-term complications of DDH like osteoarthritis.
Developmental dysplasia hip
Developmental dysplasia of the hip (DDH) is a spectrum of hip disorders involving abnormal development of the femoral head and acetabulum. It ranges from instability where the femoral head can subluxate to full dislocation. Risk factors include ligamentous laxity and breech positioning. Ultrasound and x-rays are used to diagnose and monitor treatment, which may involve closed or open reduction depending on age, along with bracing or casting. The goal is early concentric reduction to prevent future hip degeneration.
Developmental dysplasia of the hip
Orthopedic course
overview
Introduction
Epidemiology
Etiology and pathogenesis
Pathology
Clinical Features and tests
Imaging
Treatment
Complications
Questions
References
Can I Offer More 4
This document provides information on evaluating the elbow on x-ray, including normal anatomy, common injuries, and signs to look for. It discusses the fat pad sign seen with joint effusion, anatomical lines used to evaluate fractures and dislocations, common elbow fractures in adults and children, and positioning for optimal elbow x-rays. Key points covered include the anterior humeral line and radiocapitellar line, supracondylar fractures, radial head fractures, elbow dislocations, and using the fat pad sign to detect subtle injuries.
Pediatric chest xray
This document provides guidance on performing and interpreting chest x-rays in pediatric patients. It outlines key points to check on the x-ray such as positioning, inspiration, and exposure quality. Common anatomical structures are described such as the heart, lungs, diaphragm, and thymus. Proper positioning of tubes and lines is also discussed. The goal is to obtain high quality images to accurately identify any abnormalities while minimizing radiation exposure in children.
Dr charan ddh
This document discusses developmental dysplasia of the hip (DDH), which refers to dysplasia of the hip joint that develops during fetal life or infancy. It can range from shallow acetabulum to complete hip dislocation. DDH is more common in females and risk factors include breech presentation and family history. Treatment depends on age, with Pavlik harness used in infants under 6 months and hip spica casting for older infants and children under 2 years. The goal of treatment is to reduce the femoral head in the acetabulum and allow normal hip joint development.
Developmental Dysplasia Of Hip
Developmental dysplasia of the hip (DDH) is caused by genetic, hormonal, and intrauterine positioning factors. At birth, the hip is unstable but normally shaped, though the capsule may be stretched. During infancy, changes develop due to persistent instability, including the femoral head dislocating posteriorly and the acetabulum becoming shallow and anteverted. Clinical features include asymmetry, clicking hips, or difficulty with diapers in newborns, and limping or waddling gaits in older children. Ultrasound effectively images the hip joint. Treatment depends on age, ranging from abduction splinting in infants to osteotomies and hip replacement in older children and adults. The
Thoracic positioning
Chest x-rays are commonly used to examine the lungs but have limitations as they provide a 2D image of a 3D structure. It is important to follow proper protocol for chest x-ray imaging including checking patient details, film quality, inspiration level, and positioning. Key aspects of positioning involve ensuring proper centering, angles, and inspiration to obtain quality images and accurately interpret findings. Following standardized guidelines is vital for consistent and accurate chest x-ray interpretation.
developmental dysplasia of the hip
Developmental dysplasia of the hip (DDH) is a congenital or acquired deformation of the hip joint where the hips are dislocatable at birth. It can present as a complete hip dislocation, partial hip subluxation, or hip dysplasia. DDH has a higher incidence in females and is caused by generalized ligament laxity from maternal hormones. Clinical signs include asymmetry of skin folds, limping, or limited hip abduction. DDH is diagnosed through tests like the Barlow and Ortolani maneuvers or imaging like x-rays and ultrasound. Treatment depends on age but aims to flex and abduct the hips through methods like the Pavlik harness or hip spica cast.
Contracted pelvis
Contracted pelvis, also known as pelvic disproportion, occurs when the essential diameters of the pelvis are shortened, altering the normal mechanism of labor. It can be caused by developmental, metabolic, traumatic or other factors. Pelvises are classified based on degree of contraction and pelvic architecture. Diagnosis involves history, physical exam including internal and external pelvimetry, and sometimes radiological imaging. An internal pelvimetry exam evaluates the inlet, cavity, and outlet to determine pelvic adequacy for vaginal delivery.
Interpretation of normal radiograph
This document provides an overview of interpreting normal radiographs. It discusses common radiographic terminology and densities seen on x-rays. It then examines how to interpret different types of radiographs, including the skull, chest, abdomen, pelvis, spine and extremities. For each area, it outlines the standard views, anatomy visible, and things to look for. Overall, the document serves as a guide for medical professionals on analyzing normal findings across various radiographic images.
first trimester ultrasound and overview of obs imaging
Ultrasound is a safe, non-invasive imaging technique used to evaluate pregnancies. This document discusses the use of ultrasound in the first trimester to confirm intrauterine pregnancy location, estimate gestational age, diagnose ectopic pregnancies or multiples, and evaluate vaginal bleeding or pain. Normal ultrasound anatomy is shown for the gestational sac, embryo, and fetus. The second and third trimesters are used to further assess fetal growth and anatomy, amniotic fluid levels, placental location, and fetal well-being. Detailed guidelines are provided for assessing the fetal head, chest, abdomen, extremities, and gender.
first trimester ultrasound and overview of obs imaging
Ultrasound is a safe and non-invasive imaging technique used to examine the fetus and provide information about gestational age, fetal growth, anatomy and well-being. This document discusses the use of ultrasound in the first, second and third trimesters of pregnancy. In the first trimester, ultrasound is used to confirm intrauterine pregnancy, detect anomalies, and measure nuchal translucency. Standard views include measurements of the gestational sac, embryo and fetal heart. The second and third trimesters involve detailed anatomical surveys and measurements to assess fetal growth and anatomy. Key views include the brain, heart, abdomen and limbs. Ultrasound provides important information to guide management and care of the pregnant woman and fetus
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Presentation1, radiological imaging of developmental dysplasia of the hip joint.
Presentation1, radiological imaging of developmental dysplasia of the hip joint.
Developmental Dysplasia of Hip Radiological findings
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first trimester ultrasound and overview of obs imaging
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Congenital skeletal dysplasia
- 2. DR SAMI UR RAHMAN PGR IV DEPARTMENT OF DIAGNOSTIC RADIOLOGY MTI /KTH PESHAWAR
- 3. Congenital skeletal dysplasia congenital skeletal anomalies
- 4. Upper limb Adactyly----absence of finger Amelia----absence of limbs Brachydactyly----short phalanges Brachymesophalangy---short middle phalanges
- 6. Sprengel shoulder This deformity consist of an abnormally high scapula .the deformity is due to failure of the shoulder girdle to descend from its embryonic position in the neck ,a process which is normally completed by the end of the third fetal month .the lesion is usually unilateral though it may b bilateral. Failure of normal descent of scapula from initial mid-cervical position to final thoracic position. Descent should occur between sixth and eight weeks gestation
- 11. Whenever u see sprengel shoulder deformity always look for Cervical spina bifida ,klippel feil anamoly ,cervical ribs and other ribs lesions, scoliosis.
- 12. Congenital anomalies Radius and ulna Radial defects are much more common than ulnar and may occur in isolation or as part of major syndromes May occur with Ectodermal dysplasia Holt oram syndrome Fanconi,s syndrome thrmbocytopenia
- 15. Hands and wrists
- 16. Hand and wrist Carpal fusion may occur in isolation or a part of a syndrome
- 18. Poly dactyly May b alone or with other syndrome
- 19. Poly d
- 20. The lower limb DDH (developmental dysplasia of hip joint) Proximal femoral focal deficiency Idiopathic coxa vara of childhood
- 21. DDH THIS is very important condition because success in its treatment depend upon early recognition
- 22. DDH It is unilateral but both hips may b involved, female are more commonly affected
- 23. DDH Absolute indication for imaging the hip joint Family hx of congenital dislocation of hip Neonatal hip instability Likb shortening Limitation of hip abduction in flexion
- 24. Relative indication Breech presentation Ist born child Caeseran section Other congenital abnormalities
- 25. ultrasound Screening period >2weeks and upto 4 to 6 months of age Examination impractical beyond 4 to 6 months of age
- 26. Ultrasound method The image is obtained with the child on his/her side with the hip slightly flexed the tranducer is parallel to the illium and the image obtained in coronal plane. The measurement of Graf angles may b made in the assessment of hip dysplasia to determine the degree of dysplasia.
- 30. Ultrasound is accptible method for DDH
- 32. Abnormal
- 33. Plain film AP pelvic radiograpgh :>4 – 6 months of age Not reliable first 3 months of life Actebular angle greater than 3o degree strongly suggests dysplasia
- 36. Hilgenreiner line The Hilgenreiner line is a line drawn horizontally through the inferior aspect of both triradiate cartilages. It should be horizontal, but is mainly used as a reference for Perkin line and measurement of the acetabular angle.
- 37. Perkin line The Perkin line is drawn perpendicular to Hilgenreiner line, intersecting the lateral most aspect of the acetabular roof.
- 38. Acetabular angle The acetabular angle is formed by the intersection between a line drawn tangential to the acetabular roof and Hilgenreiner line, forming an acute angle..
- 39. Shenton line The Shenton line is drawn along the inferior border of the superior pubic ramus and should continue laterally along the inferomedial aspect of the proximal femur as a smooth line. If there is a superolateral migration of the proximal femur due to DDH then this line will be discontinuous.
- 42. Proximal femoral focal deficiency (PFFD)
- 45. Idiopathic coxa vara of childhood
- 50. The foot and ankles Talipes quinovarus (club foot)
- 55. The spine Spina bafida
- 57. Cervical rib
- 58. Cervical rib
- 60. scoliosis