Comment on:
Clin Genet. 1990 May;37(5):347-50.
Branchio-oculo-facial and branchio-oto-renal syndromes are distinct entities.
Lin AE, Doherty R, Lea D.
PMID: 1576761 [PubMed - indexed for MEDLINE...
A father and son are described with an autosomal dominant branchial cleft syndrome resembling both the branchio-oto-renal and the branchio-oculo-facial syndrome. Both syndromes may represent variant e...
In addition to craniofacial, auricular, ophthalmologic, and oral anomalies, the distinctive phenotype of the branchio-oculo-facial (BOF) syndrome (MIM 113620) includes skin defects in the neck or infr...
Three families are presented, one with branchio-oto-renal dysplasia (BOR) and two with branchio-oto dysplasia (BO). The former syndrome is characterized by external ear malformations, cervical fistula...
Eight new cases of "ear-pits-deafness syndrome" are reported here; in particular, the audiometric and tomographic findings of the ear and renal echography are discussed. Although it is difficult to gi...