Mesomelic dysplasia, Savarirayan type
MONDO:0011530Mesomelic dysplasia, Savarirayan type is characterized by severely hypoplastic and triangular-shaped tibiae, and absence of the fibulae. So far, two sporadic cases have been described. Moderate mesomelia of the upper limbs, proximal widening of the ulnas, pelvic anomalies and marked bilateral glenoid hypoplasia were also reported.
Also known as: mesomelic dysplasia with absent fibulas and triangular tibias, mesomelic dysplasia, Savarirayan type, triangular tibia-fibular aplasia syndrome, mesomelic dysplasia Savarirayan type, triangular tibia and fibular aplasia
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