Article
Osteocraniostenosis-hypomineralized skull with gracile long bones and splenic hypoplasia. Four new cases with distinctive chondro-osseous morphology.
American journal of medical genetics. Part A - 15 Jul 2006
Elliott Alison M, Wilcox William R, Spear Gerald S, Field Fiona M, Steffensen Thora S, Friedman Barbara D, Rimoin David L, Lachman Ralph S
Abstract excerpt
Osteocraniostenosis is a severe skeletal dysplasia characterized by a hypomineralized skull that has been previously described as kleeblattschädel (cloverleaf skull) and overtubulated long bones. Dysmorphic facial features include a short nose, short philtrum, and a small, inverted V-shaped mouth. Splenic a/hypoplasia is a constant finding. We report four infants (two unrelated and two siblings) with...
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