A case of oto-palato-digital syndrome
| Autor: | Takashi Fujibayashi, Makoto Shinohara, Hirotate Iwase, Setsuko Asakura, Yukihiro Yokokura |
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| Rok vydání: | 1997 |
| Předmět: | |
| Zdroj: | Japanese Journal of Oral & Maxillofacial Surgery. 43:514-516 |
| ISSN: | 2186-1579 0021-5163 |
| DOI: | 10.5794/jjoms.43.514 |
| Popis: | Oto-palato-digital syndrome (OPD) is a rare disease. The principal features of OPD are hearing loss, cleft palate, and skeletal dysplasia of the hands and feet.A one-month-old infant with OPD is descrived. His face showed frontal bossing, hypertelorism, antimongoloid slant of the palpebral fissures, and a broad nasal bridge. The external ears were slightly low-set, and he had conductive hearing impairment. The patient also had a small mouth and glossoptosis with a cleft palate. In general, he had a normal configuration of the fingers, but had giant 2nd toes and left cryptorchidism. Chromosomal studies revealed no abnormalities, and his family history was negative for congenital malformations. |
| Databáze: | OpenAIRE |
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