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Questions and Answers
Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
What is the most common congenital dwarfism?
What is the most common congenital dwarfism?
Which condition is associated with a trident hand?
Which condition is associated with a trident hand?
What is a typical feature of cleidocranial dysostosis?
What is a typical feature of cleidocranial dysostosis?
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Which syndrome is characterized by arachnodactyly?
Which syndrome is characterized by arachnodactyly?
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What condition is known for multiple wormian bones?
What condition is known for multiple wormian bones?
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Which skeletal dysplasia has a feature called 'Steinberg sign'?
Which skeletal dysplasia has a feature called 'Steinberg sign'?
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What type of inheritance pattern is seen in osteogenesis imperfecta?
What type of inheritance pattern is seen in osteogenesis imperfecta?
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Which condition may present with blue sclerae and brittle teeth?
Which condition may present with blue sclerae and brittle teeth?
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What is the most common cause of death in severe congenital osteogenesis imperfecta?
What is the most common cause of death in severe congenital osteogenesis imperfecta?
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What is a major clinical feature of Nail-Patella syndrome?
What is a major clinical feature of Nail-Patella syndrome?
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Which condition is associated with the 'bone within a bone' appearance?
Which condition is associated with the 'bone within a bone' appearance?
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In which condition is 'candle wax dripping' a radiologic feature?
In which condition is 'candle wax dripping' a radiologic feature?
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Which skeletal dysplasia is characterized by bilateral lens dislocation?
Which skeletal dysplasia is characterized by bilateral lens dislocation?
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Which syndrome involves small or absent patellae?
Which syndrome involves small or absent patellae?
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What radiographic feature is typical in Osteopoikilosis?
What radiographic feature is typical in Osteopoikilosis?
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What is the most common type of osteogenesis imperfecta?
What is the most common type of osteogenesis imperfecta?
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Which condition is also known as 'marble bone disease'?
Which condition is also known as 'marble bone disease'?
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What is a hallmark feature of achondroplasia on x-ray?
What is a hallmark feature of achondroplasia on x-ray?
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Which disorder includes 'protrusio acetabuli' as a common feature?
Which disorder includes 'protrusio acetabuli' as a common feature?
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Which condition is characterized by a failure of osteoclast function?
Which condition is characterized by a failure of osteoclast function?
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Which condition can present with a 'pencil-thin cortices'?
Which condition can present with a 'pencil-thin cortices'?
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What radiologic sign is associated with 'sandwich vertebra'?
What radiologic sign is associated with 'sandwich vertebra'?
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Which condition often shows hypermobile joints and cardiovascular abnormalities?
Which condition often shows hypermobile joints and cardiovascular abnormalities?
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In osteogenesis imperfecta, what is a common clinical feature?
In osteogenesis imperfecta, what is a common clinical feature?
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Which condition is characterized by 'metaphyseal cupping'?
Which condition is characterized by 'metaphyseal cupping'?
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Which syndrome is associated with 'congenital lumbar stenosis'?
Which syndrome is associated with 'congenital lumbar stenosis'?
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Which skeletal dysplasia is linked with 'arachnodactyly'?
Which skeletal dysplasia is linked with 'arachnodactyly'?
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Which disorder can present with 'spatulated' pelvis?
Which disorder can present with 'spatulated' pelvis?
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Which condition may present with multiple epiphyseal abnormalities?
Which condition may present with multiple epiphyseal abnormalities?
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In which disorder is 'vertebral scalloping' a common feature?
In which disorder is 'vertebral scalloping' a common feature?
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What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
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Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
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Which condition is associated with the presence of iliac horns?
Which condition is associated with the presence of iliac horns?
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Which skeletal dysplasia features 'acromelic dysplasia'?
Which skeletal dysplasia features 'acromelic dysplasia'?
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Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
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What is the most common congenital dwarfism?
What is the most common congenital dwarfism?
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Which condition is associated with a trident hand?
Which condition is associated with a trident hand?
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What is a typical feature of cleidocranial dysostosis?
What is a typical feature of cleidocranial dysostosis?
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Which syndrome is characterized by arachnodactyly?
Which syndrome is characterized by arachnodactyly?
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What condition is known for multiple wormian bones?
What condition is known for multiple wormian bones?
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Which skeletal dysplasia has a feature called 'Steinberg sign'?
Which skeletal dysplasia has a feature called 'Steinberg sign'?
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What type of inheritance pattern is seen in osteogenesis imperfecta?
What type of inheritance pattern is seen in osteogenesis imperfecta?
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Which condition may present with blue sclerae and brittle teeth?
Which condition may present with blue sclerae and brittle teeth?
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What is the most common cause of death in severe congenital osteogenesis imperfecta?
What is the most common cause of death in severe congenital osteogenesis imperfecta?
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What is a major clinical feature of Nail-Patella syndrome?
What is a major clinical feature of Nail-Patella syndrome?
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Which condition is associated with the 'bone within a bone' appearance?
Which condition is associated with the 'bone within a bone' appearance?
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In which condition is 'candle wax dripping' a radiologic feature?
In which condition is 'candle wax dripping' a radiologic feature?
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Which skeletal dysplasia is characterized by bilateral lens dislocation?
Which skeletal dysplasia is characterized by bilateral lens dislocation?
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Which syndrome involves small or absent patellae?
Which syndrome involves small or absent patellae?
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What radiographic feature is typical in Osteopoikilosis?
What radiographic feature is typical in Osteopoikilosis?
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What is the most common type of osteogenesis imperfecta?
What is the most common type of osteogenesis imperfecta?
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Which condition is also known as 'Marble bone disease'?
Which condition is also known as 'Marble bone disease'?
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What is a hallmark feature of achondroplasia on x-ray?
What is a hallmark feature of achondroplasia on x-ray?
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Which disorder includes 'protrusio acetabuli' as a common feature?
Which disorder includes 'protrusio acetabuli' as a common feature?
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Which condition is characterized by a failure of osteoclast function?
Which condition is characterized by a failure of osteoclast function?
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Which condition can present with a 'pencil-thin cortices'?
Which condition can present with a 'pencil-thin cortices'?
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What radiologic sign is associated with 'Sandwich vertebra'?
What radiologic sign is associated with 'Sandwich vertebra'?
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Which condition often shows hypermobile joints and cardiovascular abnormalities?
Which condition often shows hypermobile joints and cardiovascular abnormalities?
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In osteogenesis imperfecta, what is a common clinical feature?
In osteogenesis imperfecta, what is a common clinical feature?
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Which condition is characterized by 'metaphyseal cupping'?
Which condition is characterized by 'metaphyseal cupping'?
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Which syndrome is associated with 'congenital lumbar stenosis'?
Which syndrome is associated with 'congenital lumbar stenosis'?
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Which skeletal dysplasia is linked with 'arachnodactyly'?
Which skeletal dysplasia is linked with 'arachnodactyly'?
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Which disorder can present with 'spatulated' pelvis?
Which disorder can present with 'spatulated' pelvis?
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Which condition may present with multiple epiphyseal abnormalities?
Which condition may present with multiple epiphyseal abnormalities?
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In which disorder is 'vertebral scalloping' a common feature?
In which disorder is 'vertebral scalloping' a common feature?
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What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
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Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
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Which condition is associated with the presence of iliac horns?
Which condition is associated with the presence of iliac horns?
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Which skeletal dysplasia features 'acromelic dysplasia'?
Which skeletal dysplasia features 'acromelic dysplasia'?
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Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
Which skeletal dysplasia is characterized by 'champagne glass pelvis'?
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What is the most common congenital dwarfism?
What is the most common congenital dwarfism?
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Which condition is associated with a trident hand?
Which condition is associated with a trident hand?
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What is a typical feature of cleidocranial dysostosis?
What is a typical feature of cleidocranial dysostosis?
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Which syndrome is characterized by arachnodactyly?
Which syndrome is characterized by arachnodactyly?
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What condition is known for multiple wormian bones?
What condition is known for multiple wormian bones?
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Which skeletal dysplasia has a feature called 'Steinberg sign'?
Which skeletal dysplasia has a feature called 'Steinberg sign'?
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What type of inheritance pattern is seen in osteogenesis imperfecta?
What type of inheritance pattern is seen in osteogenesis imperfecta?
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Which condition may present with blue sclerae and brittle teeth?
Which condition may present with blue sclerae and brittle teeth?
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What is the most common cause of death in severe congenital osteogenesis imperfecta?
What is the most common cause of death in severe congenital osteogenesis imperfecta?
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What is a major clinical feature of Nail-Patella syndrome?
What is a major clinical feature of Nail-Patella syndrome?
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Which condition is associated with the 'bone within a bone' appearance?
Which condition is associated with the 'bone within a bone' appearance?
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In which condition is 'candle wax dripping' a radiologic feature?
In which condition is 'candle wax dripping' a radiologic feature?
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Which skeletal dysplasia is characterized by bilateral lens dislocation?
Which skeletal dysplasia is characterized by bilateral lens dislocation?
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Which syndrome involves small or absent patellae?
Which syndrome involves small or absent patellae?
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What radiographic feature is typical in Osteopoikilosis?
What radiographic feature is typical in Osteopoikilosis?
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What is the most common type of osteogenesis imperfecta?
What is the most common type of osteogenesis imperfecta?
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Which condition is also known as 'Marble bone disease'?
Which condition is also known as 'Marble bone disease'?
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What is a hallmark feature of achondroplasia on x-ray?
What is a hallmark feature of achondroplasia on x-ray?
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Which disorder includes 'protrusio acetabuli' as a common feature?
Which disorder includes 'protrusio acetabuli' as a common feature?
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Which condition is characterized by a failure of osteoclast function?
Which condition is characterized by a failure of osteoclast function?
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Which condition can present with a 'pencil-thin cortices'?
Which condition can present with a 'pencil-thin cortices'?
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What radiologic sign is associated with 'Sandwich vertebra'?
What radiologic sign is associated with 'Sandwich vertebra'?
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Which condition often shows hypermobile joints and cardiovascular abnormalities?
Which condition often shows hypermobile joints and cardiovascular abnormalities?
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In osteogenesis imperfecta, what is a common clinical feature?
In osteogenesis imperfecta, what is a common clinical feature?
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Which condition is characterized by 'metaphyseal cupping'?
Which condition is characterized by 'metaphyseal cupping'?
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Which syndrome is associated with 'congenital lumbar stenosis'?
Which syndrome is associated with 'congenital lumbar stenosis'?
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Which skeletal dysplasia is linked with 'arachnodactyly'?
Which skeletal dysplasia is linked with 'arachnodactyly'?
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Which disorder can present with 'spatulated' pelvis?
Which disorder can present with 'spatulated' pelvis?
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Which condition may present with multiple epiphyseal abnormalities?
Which condition may present with multiple epiphyseal abnormalities?
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In which disorder is 'vertebral scalloping' a common feature?
In which disorder is 'vertebral scalloping' a common feature?
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What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
What is the typical life expectancy in the mildest form of osteogenesis imperfecta (Type I)?
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Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
Which condition is characterized by multiple small radiopacities scattered in epiphyseal and metaphyseal regions?
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Which condition is associated with the presence of iliac horns?
Which condition is associated with the presence of iliac horns?
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Which skeletal dysplasia features 'acromelic dysplasia'?
Which skeletal dysplasia features 'acromelic dysplasia'?
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Study Notes
Skeletal Dysplasias Overview
- Skeletal dysplasia refers to a group of disorders affecting bone and cartilage growth, resulting in various skeletal anomalies.
- Common features include short stature, deformities, and skeletal abnormalities visible through radiology.
Key Dysplasias and Their Characteristics
-
Achondroplasia
- Known for 'champagne glass pelvis' appearance.
- The most common form of congenital dwarfism.
- Features a trident hand appearance and narrowing of the interpedicular distance on X-ray.
- Associated with 'metaphyseal cupping' and 'congenital lumbar stenosis'.
-
Cleidocranial Dysostosis
- Characterized by hypoplastic or absent clavicles.
- May present with multiple wormian bones and iliac horns.
- 'Spatulated pelvis' can be observed.
-
Marfan's Syndrome
- Features arachnodactyly and bilateral lens dislocation.
- Include hypermobile joints and cardiovascular abnormalities.
- Associated with 'vertebral scalloping'.
-
Osteogenesis Imperfecta
- Involves brittle bones prone to fractures, with a common feature of blue sclerae.
- Characterized by 'candle wax dripping' appearance on X-ray.
- Life expectancy in Type I is usually normal.
-
Osteopetrosis
- Known as 'Marble bone disease' due to excessive bone density.
- Displays 'bone within a bone' appearance radiologically.
- Function failure of osteoclasts is a primary issue.
Clinical Features and Signs
-
Common X-ray Findings
- Multiple small radiopacities are indicative of osteopoikilosis.
- 'Sandwich vertebra' and 'pencil-thin cortices' are associated with osteopetrosis and osteogenesis imperfecta respectively.
-
Genetic Inheritance Patterns
- Osteogenesis imperfecta follows autosomal dominant inheritance.
Additional Syndromes
-
Nail-Patella Syndrome
- Key feature includes dysplastic fingernails and small/absent patellae.
-
Melorheostosis
- Distinguished by 'candle wax dripping' radiologic feature.
Complications and Prognosis
- Severe cases of osteogenesis imperfecta can lead to intracranial hemorrhage, which is a common cause of death.
- The presence of congenital abnormalities and skeletal dysplasia can impact life quality and expectancy differently based on severity and type.
Important Investigations
- Radiologic imaging is crucial to diagnose and visualize the specifics of each skeletal dysplasia.
- Close examination of skeletal features helps differentiate among various conditions effectively.
Skeletal Dysplasias Overview
- Skeletal dysplasia refers to a group of disorders affecting bone and cartilage growth, resulting in various skeletal anomalies.
- Common features include short stature, deformities, and skeletal abnormalities visible through radiology.
Key Dysplasias and Their Characteristics
-
Achondroplasia
- Known for 'champagne glass pelvis' appearance.
- The most common form of congenital dwarfism.
- Features a trident hand appearance and narrowing of the interpedicular distance on X-ray.
- Associated with 'metaphyseal cupping' and 'congenital lumbar stenosis'.
-
Cleidocranial Dysostosis
- Characterized by hypoplastic or absent clavicles.
- May present with multiple wormian bones and iliac horns.
- 'Spatulated pelvis' can be observed.
-
Marfan's Syndrome
- Features arachnodactyly and bilateral lens dislocation.
- Include hypermobile joints and cardiovascular abnormalities.
- Associated with 'vertebral scalloping'.
-
Osteogenesis Imperfecta
- Involves brittle bones prone to fractures, with a common feature of blue sclerae.
- Characterized by 'candle wax dripping' appearance on X-ray.
- Life expectancy in Type I is usually normal.
-
Osteopetrosis
- Known as 'Marble bone disease' due to excessive bone density.
- Displays 'bone within a bone' appearance radiologically.
- Function failure of osteoclasts is a primary issue.
Clinical Features and Signs
-
Common X-ray Findings
- Multiple small radiopacities are indicative of osteopoikilosis.
- 'Sandwich vertebra' and 'pencil-thin cortices' are associated with osteopetrosis and osteogenesis imperfecta respectively.
-
Genetic Inheritance Patterns
- Osteogenesis imperfecta follows autosomal dominant inheritance.
Additional Syndromes
-
Nail-Patella Syndrome
- Key feature includes dysplastic fingernails and small/absent patellae.
-
Melorheostosis
- Distinguished by 'candle wax dripping' radiologic feature.
Complications and Prognosis
- Severe cases of osteogenesis imperfecta can lead to intracranial hemorrhage, which is a common cause of death.
- The presence of congenital abnormalities and skeletal dysplasia can impact life quality and expectancy differently based on severity and type.
Important Investigations
- Radiologic imaging is crucial to diagnose and visualize the specifics of each skeletal dysplasia.
- Close examination of skeletal features helps differentiate among various conditions effectively.
Skeletal Dysplasias Overview
- Skeletal dysplasia refers to a group of disorders affecting bone and cartilage growth, resulting in various skeletal anomalies.
- Common features include short stature, deformities, and skeletal abnormalities visible through radiology.
Key Dysplasias and Their Characteristics
-
Achondroplasia
- Known for 'champagne glass pelvis' appearance.
- The most common form of congenital dwarfism.
- Features a trident hand appearance and narrowing of the interpedicular distance on X-ray.
- Associated with 'metaphyseal cupping' and 'congenital lumbar stenosis'.
-
Cleidocranial Dysostosis
- Characterized by hypoplastic or absent clavicles.
- May present with multiple wormian bones and iliac horns.
- 'Spatulated pelvis' can be observed.
-
Marfan's Syndrome
- Features arachnodactyly and bilateral lens dislocation.
- Include hypermobile joints and cardiovascular abnormalities.
- Associated with 'vertebral scalloping'.
-
Osteogenesis Imperfecta
- Involves brittle bones prone to fractures, with a common feature of blue sclerae.
- Characterized by 'candle wax dripping' appearance on X-ray.
- Life expectancy in Type I is usually normal.
-
Osteopetrosis
- Known as 'Marble bone disease' due to excessive bone density.
- Displays 'bone within a bone' appearance radiologically.
- Function failure of osteoclasts is a primary issue.
Clinical Features and Signs
-
Common X-ray Findings
- Multiple small radiopacities are indicative of osteopoikilosis.
- 'Sandwich vertebra' and 'pencil-thin cortices' are associated with osteopetrosis and osteogenesis imperfecta respectively.
-
Genetic Inheritance Patterns
- Osteogenesis imperfecta follows autosomal dominant inheritance.
Additional Syndromes
-
Nail-Patella Syndrome
- Key feature includes dysplastic fingernails and small/absent patellae.
-
Melorheostosis
- Distinguished by 'candle wax dripping' radiologic feature.
Complications and Prognosis
- Severe cases of osteogenesis imperfecta can lead to intracranial hemorrhage, which is a common cause of death.
- The presence of congenital abnormalities and skeletal dysplasia can impact life quality and expectancy differently based on severity and type.
Important Investigations
- Radiologic imaging is crucial to diagnose and visualize the specifics of each skeletal dysplasia.
- Close examination of skeletal features helps differentiate among various conditions effectively.
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Description
Test your knowledge on skeletal dysplasias with this quiz! Explore key characteristics and types, including congenital dwarfism and unique skeletal features. Perfect for students studying medical terminology and human anatomy.