Abstract
Thirteen newborns with lethal short ribpolydactyly (SRP) have been reviewed, 11 with SRP type III (Verma-Naumoff) and 2 with SRP type II (Majewski). In the former group there were three sets of siblings. The excess of males with SRP type III (Verma-Naumoff) is confirmed in this present study. A high frequency of phenotypic females including sex-reversed constitutional males with SRP type I (Saldino-Noonan) is in marked contrast to these findings in SRP type III. Possible hypotheses include variable expressivity in non-Majewski short rib-polydactyly syndromes with sex-reversed and constitutional female cases tending to show more severe phenotypic expression both in terms of major anomalies and skeletal dysplastic effects.
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Sillence, D., Kozlowski, K., Bar-ziv, J. et al. Perinatally lethal short rib-polydactyly syndromes 1. Variability in known syndromes. Pediatr Radiol 17, 474–480 (1987). https://doi.org/10.1007/BF02388282
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DOI: https://doi.org/10.1007/BF02388282