Anemia, Congenital Hypoplastic, With Multiple Congenital Anomalies/mental Retardation Syndrome

Mori et al. (1999) described a girl with congenital hypoplastic anemia, 'coarse' face, generalized hypertrichosis with scalp hypotrichosis, short fifth finger, hypoplastic toenails, and mental retardation. A sister, who died at the age of 1 year, had severe congenital anemia, hypoplastic fingernails, low birth weight, failure to thrive, and repeated upper respiratory tract infections. Mori et al. (1999) suggested that the same multiple congenital anomalies/mental retardation syndrome (MCA/MR) was present in the sister. They could find no reports of precisely the same combination of symptoms, which appeared to be transmitted in an autosomal recessive manner.