Article
Branchio-oculo-facial syndrome.
Indian journal of pediatrics - 1 Aug 2005
Kulkarni M L, Deshmukh Shilpa, Kumar Ananda, Kulkarni Preethi M
Abstract excerpt
Branchio-oculo-facial syndrome (BOFS) is a very rare autosomal dominant disorder with incomplete penetrance and variable expression; with phenotypic variation ranging from mild to severe forms, involving eye, ear, oral and craniofacial structure. We report three members of one family, showing great variability in its phenotypic expression and review the recent literature.
Topics
- Adolescent
- Branchio-Oto-Renal Syndrome
- Child
- Female
- Genes, Dominant
- Humans
- Male
- Phenotype