A NEW SYNDROME OF DWARFISM, BRACHYDACTYLY, NAIL DYSPLASIA, AND MENTAL-RETARDATION IN SIBS

We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a 'coarse' face with synophrys, ear anomalies, skeletal anomalies, dwarfism, and mental retardaion. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a 'coarse' face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.