Branchio-oto-renal syndrome with generalized microdontia
| Autor: | Rebecca John, Sherene Alexander, N T Prabhu |
|---|---|
| Rok vydání: | 1999 |
| Předmět: |
Branchio-oto-renal syndrome
Pathology medicine.medical_specialty business.industry Aplasia medicine.disease Renal dysplasia Lacrimal duct aplasia medicine.anatomical_structure Otorhinolaryngology Generalized microdontia RENAL DYSGENESIS Pharyngeal groove Medicine Surgery Inner ear sense organs Oral Surgery business General Dentistry |
| Zdroj: | Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontology. 87:180-183 |
| ISSN: | 1079-2104 |
| DOI: | 10.1016/s1079-2104(99)70270-2 |
| Popis: | Branchio-oto-renal syndrome, first defined in 1976, is an autosomal dominant disorder characterized by anomalies of the external, middle, and inner ear in association with preauricular sinuses, branchial cleft anomalies, and varying degrees of renal dysplasia, including aplasia. Less frequently expressed phenotypic abnormalities include lacrimal duct aplasia and stigmata of renal dysgenesis known as Potter facies. Although the precise incidence of the disorder is unknown, it may be more common than is generally appreciated, and it appears to be distinct from other autosomal dominant otobranchial syndromes. Moreover, not all features of the syndrome are expressed in all carriers of the gene. An unusual case of branchio-oto-renal syndrome with generalized microdontia of the permanent dentition is reported. |
| Databáze: | OpenAIRE |
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