VARIANT OF COFFIN-SIRIS SYNDROME OR PREVIOUSLY UNDESCRIBED SYNDROME

We describe a 23-year-old woman with growth and mental retardation, hy poplasia of the nails and distal phalanges, particularly of the fifth fingers and toes, hirsutism, and a ''coarse'' face with large mouth an d large tongue, and bushy eyebrows. Followup from birth to adulthood s howed that developmental delay and hypoplasia of nails and distal phal anges are permanent signs. Sparse scalp hair, hypotonia, and feeding d ifficulties were present in early infancy. Later, growth retardation, hirsutism, and a ''coarse'' face with midface hypoplasia, broad nose, and large mouth became more impressive. Differential diagnosis include s a number of conditions, particularly Coffin-Siris syndrome, which is the most likely but not completely convincing diagnosis. Therefore, t his woman might represent a variant of Coffin-Siris syndrome or a new entity. (C) 1996 Wiley-Liss, Inc.