CONGENITAL HYPERTRICHOSIS, OSTEOCHONDRODYSPLASIA, AND CARDIOMEGALY - FURTHER DELINEATION OF A NEW GENETIC SYNDROME

The hypertrichosis and osteochondrodysplasia syndrome is a rare entity with clinical findings including macrosomia at birth cardiomegaly. Au tosomal recessive inheritance is presumed based on the report of two a ffected sibs born to healthy parents. Here we report on four new patie nts with their follow-up data, as well as on one of the four cases fro m the original report. Comparison of all eight cases indicates that th ey share 50% of clinical and radiological changes. This report contrib utes to the further delineation of this newly recognized syndrome. (C) 1997 Wiley-Liss, Inc.