Oto-facio-osseous-gonadal syndrome: a new form of syndromic deafness?
| Autor: | Andrea R. Duarte, Thereza S. S. Lins, Elias O. Da-Silva |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty Prominent forehead Genes Recessive Deafness Short stature Bone and Bones Genu Valgum Craniofacial Abnormalities Internal medicine Cryptorchidism otorhinolaryngologic diseases Genetics medicine Humans Abnormalities Multiple Child Growth Disorders Genetics (clinical) Nose business.industry Bone age Syndrome Anatomy medicine.disease Pedigree Radiography body regions Inguinal hernia medicine.anatomical_structure Endocrinology Wormian bones Female medicine.symptom business Brachycephaly |
| Zdroj: | Clinical Genetics. 52:51-55 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1997.tb02514.x |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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