Acrofacial dysplasia resembling geleophysic dysplasia.
We report on a 12-year-old girl with acrofacial dysplasia, growth retardation, joint contractures, mitral valve incompetence and focal hepatic storage of material reacting histochemically as glycoprotein. The patient's phenotype resembles that of patients with geleophysic dysplasia but differs with respect to facial appearance, milder changes of hand bones and normal capital femoral epiphyses. It is undecided if her disorder is part of a wider phenotypic spectrum of geleophysic dysplasia or a different entity.
D000015:Abnormalities, Multiple / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D002648:Child; D005260:Female; D005532:Foot Deformities, Congenital; D006023:Glycoproteins / Q000378:metabolism; D006228:Hand Deformities, Congenital; D006801:Humans; D008099:Liver / Q000648:ultrastructure
D006023:Glycoproteins