Article
Skeletal dysplasias with gracile bones: three new cases, including two offspring of a mother with a dwarfing condition.
American journal of medical genetics - 5 Mar 1998
Costa T, Azouz E M, Fitzpatrick J, Kamel-Reid S, Smith C R, Silver M M
Abstract excerpt
We describe 3 new cases of a rare form of dwarfism (so-called "lethal skeletal dysplasia with gracile bones" or "osteocraniostenosis"), a condition characterized by thin, brittle bones and death in late gestation or early neonatal life. The first was a 37-week gestation female who died at delivery. She had facial anomalies and positional abnormalities of the hands and feet. The others were male stillborn sibs,...
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