Perinatally lethal short rib-polydactyly syndromes. 1. Variability in known syndromes

Pediatr Radiol. 1987;17(6):474-80. doi: 10.1007/BF02388282.

Abstract

Thirteen newborns with lethal short rib-polydactyly (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.

MeSH terms

  • Bone and Bones / diagnostic imaging
  • Diagnosis, Differential
  • Humans
  • Infant, Newborn
  • Osteochondrodysplasias / diagnostic imaging*
  • Phenotype
  • Radiography
  • Sex Factors
  • Short Rib-Polydactyly Syndrome / classification
  • Short Rib-Polydactyly Syndrome / diagnostic imaging*
  • Short Rib-Polydactyly Syndrome / genetics