Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?

Am J Med Genet. 1991 Nov 1;41(2):201-7. doi: 10.1002/ajmg.1320410214.

Abstract

Ivemark et al. first described sibs with renal-hepatic-pancreatic dysplasia (RHPD) (Ivemark BI, Oldfelt V, Zetterström R (1959): Acta Pediatr Scand 48: 1-11). Subsequent reports of affected individuals have described additional malformations and syndromes associated with RHPD. In this paper we describe 2 sibs with RHPD in association with Dandy-Walker cyst (DW). Through an examination of the pattern of associated malformations seen in RHPD we argue that RHPD-DW is a distinct monogenetic syndrome, and not an association.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / classification
  • Abnormalities, Multiple / genetics*
  • Bile Ducts / abnormalities
  • Dandy-Walker Syndrome / diagnostic imaging
  • Dandy-Walker Syndrome / genetics*
  • Diseases in Twins
  • Fetal Diseases / diagnostic imaging
  • Fetal Diseases / genetics
  • Genes, Recessive
  • Liver / abnormalities*
  • Lung / abnormalities
  • Pancreas / abnormalities*
  • Polycystic Kidney Diseases / congenital
  • Polycystic Kidney Diseases / genetics*
  • Prenatal Diagnosis
  • Syndrome
  • Twins, Dizygotic
  • Ultrasonography