Barber-Say syndrome: further delineation of the clinical spectrum

Abstract

We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martinet Santana et al. including the same until then undescribed dermatoglyphic pattern.