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 radiographic 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 disease but considered typical of types I (Saldino-Noonan) and III (Verma-Naumoff) SRPS. These data support the suggested hypothesis that the SRPS alternative manifestations of a single genetic entity. In addition, we found histologic features not previously documented in the Beemer-Langer syndrome illustrating the histopathologic variability of the condition.