title: Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?
abstract: Two siblings with peculiar facies, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation were reported. The similarity of both the dysmorphic features and the clinical course suggests a new syndrome, which inheritance is considered to be autosomal recessive.
mesh_terms: D002972:Cleft Palate / Q000235:genetics*; D003638:Deafness / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005317:Fetal Growth Retardation / Q000235:genetics; D005808:Genes, Recessive; D006130:Growth Disorders / Q000235:genetics*; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D010375:Pedigree; D011247:Pregnancy; D011596:Psychomotor Disorders / Q000235:genetics*; D013577:Syndrome