SHORT RIB-POLYDACTYLY SYNDROME (SRPS) WITH ANENCEPHALY AND OTHER CENTRAL-NERVOUS-SYSTEM ANOMALIES - A NEW-TYPE OF SRPS OR A MORE SEVERE EXPRESSION OF A KNOWN SRPS ENTITY

We describe two patients with short rib-polydactyly syndrome (SRPS) fr om two unrelated Spanish families. These patients present clinical and radiological characteristics that overlap those of the different esta blished types of SRPS. In addition, one patient had anencephaly and th e other patient had severe brain abnormalities with a family history o f an older sister with anencephaly, and a brother diagnosed with SRPS. This second family is interesting in that the two affected brothers p resent with different clinical and radiological findings; for example, one had ovoid tibiae and the other did not. This particular family sh ows that intrafamiliar variation is also observed within SRPS. It rema ins unsettled whether these cases might be considered a new type of SR PS or a variant of an established entity or whether the differences be tween the SRPS represent variability or heterogeneity. Molecular studi es may answer this question in the near future. (C) 1993 Wiley-Liss, I nc.