[Familial pelvi-scapulary dysplasia with anomalies of the epiphyses, dwarfism and dysmorphy: a new syndrome? (author's transl)].
A North African brother and his sister, whose parents were first cousins, presented with the same disorder. It consisted of congenital dwarfism, facial dysmorphy and several skeletal anomalies including bilateral agenesis of the ala of scapula and hypoplasia of the ala of ilium and acetabulum, responsible for hip dislocation. No similar case was found in the literature. A recessive autosomal transmission of the disease is suggested.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001848:Bone Diseases, Developmental / Q000235:genetics*; D002648:Child; D004392:Dwarfism / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome
Dysplasie pelvi-scapulaire familiale avec anomalies épiphysaires, nanisme et dysmorphies: un nouveau syndrome?