Syndrome branchio-oculo-facial

BOFS is variable and remains unknown to dermatologists in spite of distinctive cutaneous features. Identification of this syndrome is important to improving medical care (multidisciplinary care, further tests, genetic counselling). We report a case of atypical BOFS with a unilateral cervical cutaneous defect in one patient and bilateral cutaneous anomalies in the other four patients. In agreement with the literature, there did not appear to be mutation-specific genotype-phenotype correlations.