Additional evidence of a continuous phenotypic spectrum in the short rib-polydactyly syndromes

We report a stillborn female with most of the clinical, histologic, and rad iographic characteristics of the short rib-polydactyly syndrome (SRPS) type IV (Beemer-Langer) but also presenting prominent metaphyseal and scapular irregularities and spiking, a feature not previously described in this dise ase but considered typical of types I (Saldino-Noonan) and III (Verma-Naumo ff) SRPS. these data support the suggested hypothesis that the SRPS alterna tive manifestations of a single genetic entity. In addition, we found histo logic features not previously documented in the Beemer-Langer syndrome illu strating the histopathologic variability of the rendition.