Profound limb deficiency, thoracic dystrophy, unusual facies, and normal intelligence: a new syndrome.
A newly recognised profound limb deficiency malformation syndrome in two Arab sibs of different sexes with consanguineous parents is described. Additional features, which include thoracic dystrophy, unusual facies, and normal intelligence, are consistent in both of them. Autosomal recessive inheritance is suggested.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005149:Facial Expression; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007360:Intelligence; D008297:Male; D010375:Pedigree; D010384:Pelvic Bones / Q000002:abnormalities; D013577:Syndrome; D013896:Thoracic Diseases / Q000235:genetics*