Branchiooculofacial syndrome

Definition:

Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing loss. Branchial skin lesions covering branchial remnants are noted. Ocular anomalies and characteristic facial appearance including cleft lip/cleft palate together constitute the disease.

References:

[1]. A Fujimoto, et al. New autosomal dominant branchio-oculo-facial syndrome. Am J Med Genet. 1987 Aug;27(4):943-51. [Content Brief]

[2]. E Raveh, et al. Branchio-oculo-facial syndrome. Int J Pediatr Otorhinolaryngol. 2000 Jun 30;53(2):149-56. [Content Brief]

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