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  3. SEMD, Pakistani type

SEMD, Pakistani type

Definition:

Spondyloepimetaphyseal dysplasia (SEMD) Pakistani type, also known as brachyolmia type 4, is characterized by short, bowed lower limbs, mild brachydactyly, enlarged knee joints, and early-onset osteoarthropathy. Radiographs show delayed epiphyseal ossification in hips and knees. Nonsense mutation in ATPSK2/PAPSS2 has been reported.

Biomedical Dictionary

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