Sibs diagnosed prenatally with situs inversus totalis, renal and pancreatic dysplasia, and cysts: a new syndrome?

Am J Med Genet. 1999 Jan 15;82(2):166-9. doi: 10.1002/(sici)1096-8628(19990115)82:2<166::aid-ajmg13>3.0.co;2-j.

Abstract

We describe two sib fetuses with situs inversus, cystic dysplastic kidney and pancreas, bowing of the lower limbs and clavicles, severe intrauterine growth retardation (IUGR), and oligohydramnios. Early prenatal diagnosis of pancreatic and dysplastic renal cysts and situs inversus totalis were made in the 18-week-old fetus. This syndrome differs from that of Ivemark and related syndromes because of the presence of situs inversus totalis and absence of hepatic fibrosis and cysts. The parents were first cousins, and did not have any cysts of kidney, liver, or pancreas detected by ultrasonography.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Humans
  • Kidney / abnormalities*
  • Kidney Diseases, Cystic / complications
  • Kidney Diseases, Cystic / diagnosis*
  • Nuclear Family*
  • Pancreas / abnormalities*
  • Pancreatic Cyst / complications
  • Pancreatic Cyst / diagnosis*
  • Prenatal Diagnosis
  • Situs Inversus / complications
  • Situs Inversus / diagnosis*
  • Syndrome