Pseudoachondroplasia (PSACH) refers to a type of osteochondrodysplasia.
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Clinical presentation
It is characterized by:
- rhizomelic dwarfism
- limb and vertebral deformities
- joint laxity
- early onset osteoarthrosis
Furthermore, typically there is an absence of abnormality and a normal craniofacial appearance at birth ref.
Pathology
Due to mutations in the gene encoding cartilage oligomeric matrix protein. Pathognomonic changes of vertebral bodies are thought to invariably disappear around the age of 10 years.
Genetics
It carries an autosomal dominant inheritance 2.
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