ulna and fibula—hypoplasia of

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ulna and fibula—hypoplasia of2016-11-29T19:37:28+00:00

ulna and fibula—hypoplasia of

GENETICS, ORTHOPAEDICS

An autosomal dominant condition (OMIM:191400) characterised by shortening and typical dysplasia of the ulna and fibula, variably accompanied by changes of the radius and tibia and adjacent skeleton.

This condition may be allelic to dyschondrosteosis–OMIM:127300, which may represent the heterozygous state of Langer mesomelic dwarfism of the hypoplastic ulna—fibula and mandible type 

Synonyms Hypoplastic ulnofibular mesomelic dwarfism, Reinhardt-Pfeiffer mesomelic dysplasia, ulnofibular dysplasia, ulnofibular hypoplasia 

Reference http://www.omim.org/entry/191400

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