Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
In this study, we report on two brothers, born to consanguineous parents, with a syndrome of sensorineural deafness, short stature, cryptorchidism, inguinal hernia, brachycephaly, prominent forehead, flat face, downslanting palpebral fissures, low nasal root, hypoplastic alae and round tip to the nose, low-set prominent ears, narrow thorax, genu valgum, wormian bones, fusion of carpal bones, delayed bone age and congenital clubfeet. This combination of anomalies appears to be a previously undescribed syndrome, with probable autosomal recessive inheritance.
da-Silva
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EO
Department of Genetics, Federal University of Pernambuco, Recife, PE, Brazil.
Duarte
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AR
Lins
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TS
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D019465:Craniofacial Abnormalities / Q000000981:diagnostic imaging / Q000235:genetics; D003456:Cryptorchidism / Q000235:genetics; D003638:Deafness / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005808:Genes, Recessive; D006130:Growth Disorders / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D011859:Radiography; D013577:Syndrome