Mesomelic dysplasia Savarirayan type

Alternate names[edit | edit source]

Mesomelic dysplasia with absent fibulas and triangular tibias; Triangular tibia and fibular aplasia

Definition[edit | edit source]

Mesomelic dysplasia, Savarirayan type is characterised 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.

NIH genetic and rare disease info[edit source]

NIH info on Mesomelic dysplasia Savarirayan type

Mesomelic dysplasia Savarirayan type is a rare disease.

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Rare diseases - Mesomelic dysplasia Savarirayan type
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