A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts

Balci S., Altinok G., Teksen F., Eryilmaz M.

TURKISH JOURNAL OF PEDIATRICS, vol.45, no.2, pp.174-178, 2003 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 45 Issue: 2
  • Publication Date: 2003
  • Journal Name: TURKISH JOURNAL OF PEDIATRICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.174-178
  • Hacettepe University Affiliated: Yes

Abstract

A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst, ascites, malrotation, micropenis, undescended testes, bilateral inguinal hernia and hydrops were observed. The parents were first-degree cousins. One male and one female sibling had similar findings and both had died after birth. Only a four-year-old,healthy daughter was alive.