Short rib polydactyly syndrome-Type I

Indian J Pediatr. 2004 Apr;71(4):359-61. doi: 10.1007/BF02724109.

Abstract

Short rib polydactyly syndrome (SRPS) consists of a group of lethal skeletal dysplasias presenting with short limbs and ribs, hypoplastic thorax and polydactyly with or without visceral abnormalities. The authors report a case of SRPS in a fresh stillborn baby who had these features along with dysplastic kidneys. Clinical and radiological findings in this baby were consistent with SRPS - Type I (Saldino-Noonan Type). The diagnosis of SRPS, as in this case, can be made by antenatal ultrasonography.

Publication types

  • Case Reports

MeSH terms

  • Consanguinity*
  • Fatal Outcome
  • Female
  • Fetal Death
  • Humans
  • Pregnancy
  • Pregnancy Outcome
  • Prenatal Diagnosis
  • Short Rib-Polydactyly Syndrome / diagnosis*