Sm. Santana et al., HYPERTRICHOSIS, ATROPHIC SKIN, ECTROPION, AND MACROSTOMIA (BARBER-SAYSYNDROME) - REPORT OF A NEW CASE, American journal of medical genetics, 47(1), 1993, pp. 20-23
We report on a child, born to a consanguineous parents, who presented
with a multiple congenital anomalies (MCA) pattern consisting of sever
e hypertrichosis, macrostomia, ectropion, and atrophic skin. To our kn
owledge this is the third case with this combination of defects. The t
wo previous cases were reported by Barber et al. Syndrome Identificat
ion VIII(1):6-9,19821, and David et al. Am J Med Genet 41:192-195, 19
91!. (C) 1993 Wiley-Liss, Inc.