Congenital hypoplastic anaemia in a patient with a new multiple congenitalanomalies-mental retardation syndrome

We report on a girl with congenital hypoplastic anaemia, "coarse" face, gen eralized hypertrichosis with scalp hypotrichosis, short fifth finger, hypop lastic toenails, and mental retardation. A sister of the proposita, who die d at the age of 1 year, had severe congenital anaemia, hypoplastic fingerna ils, low birth weight, failure to thrive, and repeated upper respiratory tr act infections. Based on family history, we suspect that hypoplastic anaemi a and. the same multiple congenital anomalies-mental retardation syndrome ( MCA/MR) were also present in this sister. To the best of our knowledge, thi s patient represents the first report of congenital hypoplastic anaemia and such a complex MCA/MR syndrome, probably inherited as an autosomal recessi ve trait. Am. J. Med. Genet. 87:36-39, 1999. (C) 1999 Wiley-Liss, Inc.