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- Q77.5 Diastrophic dysplasia
- short-limbed dwarfism
- Autosomal Recessive inheritance
- deficiency in sulfate transport protein
- risk of quadriplegia
Diastrophic Dysplasia Clinical Evaluation
- “twisted” dwarf
- cleft palate
- joint contractures
- cauliflower ears
- hitchhiker thumb
- rigid clubfoot
- cervical kyphosis
- AA instability
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