title: Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family.
abstract: Cranioectodermal dysplasia (CED, Sensenbrenner syndrome; OMIM #218330) is an autosomal recessive disorder reported only in 15 cases, which is characterized by dolichocephaly, rhizomelic dwarfism, dental and nail dysplasia, and progressive tubulo-interstitial nephritis (TIN) leading to end-stage renal failure. Herein, we describe a new patient with cranio-ectodermal dysplasia. Unlike previously reported cases, this 4-year-old child presented with tubulo-interstitial nephropathy associated with liver cystic disease and elevated liver enzymes. The liver biopsy demonstrated congenital hepatic fibrosis secondary to ductal plate malformation. The coexistence of a chronic tubulo-interstitial renal disease with lesions associated to malformations of the hepatic ductal plate indicates that CED as a new member of the congenital hepatorenal fibrocystic syndromes.
authors.affiliation: Department of Nephrology and Urology, Division of Nephrology and Dialysis, Children's Hospital and Research Institute Bambino Gesu', Rome, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Zaffanello
authors.forename: Francesca
authors.initials: F
authors.lastname: Diomedi-Camassei
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Melzi
authors.forename: Giuliano
authors.initials: G
authors.lastname: Torre
authors.forename: Francesco
authors.initials: F
authors.lastname: Callea
authors.forename: Francesco
authors.initials: F
authors.lastname: Emma
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005808:Genes, Recessive; D006801:Humans; D007668:Kidney / Q000002:abnormalities*; D008099:Liver / Q000002:abnormalities* / Q000473:pathology; D008297:Male; D009395:Nephritis, Interstitial / Q000235:genetics; D013577:Syndrome