A family with diaphyseal aclasis and peripheral dysostosis.
Autosomal dominant inheritance of a type of peripheral dysostosis occurred in a family with diaphyseal aclasis. The features of their type of peripheral dysostosis were short limbed short stature, normal intelligence, very stubby fingers, flat face and nose, shortened metacarpals and terminal phalanges, thickened beaten-copper skull vault, and advanced skeletal maturation.
D000293:Adolescent; D000328:Adult; D001848:Bone Diseases, Developmental / Q000235:genetics*; D003966:Camurati-Engelmann Syndrome / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype