The patient, last of eight otherwise healthy siblings (four boys, four girls), presently 14 years old, was born at term, after the eighth pregnancy of healthy, nonconsanguineous parents (father and mother were 41 and 42 years old, respectively), with no relevant family history. Pregnancy and delivery were normal, with weight of 3400 g, and 50 cm in length at birth. Striking dysmorphic features were immediately noted: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism especially of the back. No other visceral abnormalities were observed during the neonatal period.Evaluated at the age of 13 ( Figure 1A,B), the patient showed normal mental development. Her anthropometric measurements were: height, 147.5 cm (10th percentile); weight, 37.4 kg (15th percentile), and head circumference, 52.2 cm (40th percentile). Her principal facial features were: aged appearance, ablepharon, ectropion, sparse eyebrows and eyelashes, hypertelorism, telecanthus, bulbous nose with anteverted nares, macrostomia with thin lips, prognatism, abnormally and low set small ears with a prominent antihelix, neither tragus nor lobule, and abnormal CASE REPORTBarber-Say syndrome: further delineation of the clinical spectrum AbstractWe 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 Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.