PERSISTENCE OF MULLERIAN DERIVATIVES, LYMPHANGIECTASIS, HEPATIC-FAILURE, POSTAXIAL POLYDACTYLY, RENAL AND CRANIOFACIAL ANOMALIES

We describe 3 unrelated newborn males with a previously unreported con stellation of congenital anomalies. All 3 died neonatally of hepatic f ailure. Clinically, they presented with a pattern of malformations cha racterized by prenatal linear growth deficiency, hypertrophied alveola r ridges, redundant nuchal skin, and postaxial polydactyly. All 3 case s had male external genitalia with cryptorchidism, and 2 of them, a sm all penis. Necropsies showed similar internal anomalies, consisting of mullerian duct remnants, lymphangiectasis, and renal anomalies. The k aryotypes were normal (46, XY) in skin fibroblasts (Case 1) and in per ipheral blood lymphocytes (Case 3). Although this pattern of congenita l anomalies must be differentiated from several other lethal syndromes , to our knowledge, no similar cases have been described previously. C ause of this syndrome is unknown. Because Case 2 had a previous brothe r with similar anomalies, we suspect that this new entity probably is an autosomal recessive or X-linked trait. (C) 1993 Wiley-Liss, Inc.