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Case Reports
. 2005 Aug;72(8):701-3.
doi: 10.1007/BF02724081.

Branchio-oculo-facial syndrome

M L Kulkarni  1 , Shilpa Deshmukh, Ananda Kumar, Preethi M Kulkarni
Affiliations
Case Reports

Branchio-oculo-facial syndrome

M L Kulkarni et al. Indian J Pediatr. 2005 Aug.

Abstract

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.

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References

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