acromesomelic chondrodysplasia Hunter-Thompson type
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Genetics
- autosomal recessive
- associated with defects in GDF5
Clinical manifestations
- see acromesomelic chondrodysplasia
- form of dwarfism
- patients have limb abnormalities, with the middle & distal segments being most affected & the lower limbs more affected than the upper
- normal axial skeletons & missing or fused skeletal elements within the hands & feet