Branchio-oculo-facial syndrome.
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.
Kulkarni
M L
ML
Department of Pediatrics, JJM Medical College, Davangere-577 004, India. principal@jjmme.org
Deshmukh
Shilpa
S
Kumar
Ananda
A
Kulkarni
Preethi M
PM
D000293:Adolescent; D019280:Branchio-Oto-Renal Syndrome / Q000175:diagnosis / Q000235:genetics*; D002648:Child; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008297:Male; D010641:Phenotype