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Mesomelic dysplasia, Savarirayan type

Orpha number ORPHA85170
Synonym(s) Mesomelic dysplasia with absent fibulas and triangular tibias
Triangular tibia - fibular aplasia
Prevalence Unknown
Inheritance Not applicable
Age of onset Infancy
Neonatal
ICD-10
  • Q78.8
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

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.


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