Short rib-polydactyly syndrome: more evidence of a continuous spectrum


Corresponding author: Robert Wallerstein, NYU Human Genetics Program, 550 First Avenue MSB-136, New York, NY 10016, USA. Tel: +212 263 5746; fax:+212 263 7590


We report a fetus with radiological features of the four established types of short rib-polydactyly syndrome (SRPS). The phenotype of this fetus supports the previously suggested hypothesis that the different subtypes of the short rib and polydactyly syndrome are not single entities, but rather, part of a continuous spectrum with variable expressivity.