title: Familial renal-hepatic-pancreatic dysplasia and Dandy-Walker cyst: a distinct syndrome?
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.
authors.affiliation: Division of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Canada.
authors.forename: A G
authors.initials: AG
authors.lastname: Hunter
authors.forename: C
authors.initials: C
authors.lastname: Jimenez
authors.forename: F G
authors.initials: FG
authors.lastname: Tawagi
mesh_terms: D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D001652:Bile Ducts / Q000002:abnormalities; D003616:Dandy-Walker Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D004200:Diseases in Twins; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D005808:Genes, Recessive; D008099:Liver / Q000002:abnormalities*; D008168:Lung / Q000002:abnormalities; D010179:Pancreas / Q000002:abnormalities*; D007690:Polycystic Kidney Diseases / Q000151:congenital / Q000235:genetics*; D011296:Prenatal Diagnosis; D013577:Syndrome; D014429:Twins, Dizygotic; D014463:Ultrasonography