Peculiar face, deafness, cleft palate, male pseudohermaphroditism, and growth and psychomotor retardation; a new autosomal recessive syndrome?
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.
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