Last update 21 Mar 2024

Upington Disease

Basic Info

Synonyms
Familial dyschondroplasia, Hip dysplasia with enchondromata and ecchondroma syndrome, Hip dysplasia with enchondromata and ecchondroma syndrome (disorder)
+ [6]
Introduction
Upington disease has characteristics of Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant.

Analysis

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