Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family

✍ Scribed by Marco Zaffanello; Francesca Diomedi-Camassei; Maria Luisa Melzi; Giuliano Torre; Francesco Callea; Francesco Emma

• Publisher: John Wiley and Sons
• Year: 2006
• Tongue: English
• Weight: 292 KB
• Volume: 140A
• Category: Article
• ISSN: 1552-4825
• DOI: 10.1002/ajmg.a.31464

✦ Synopsis

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. © 2006 Wiley‐Liss, Inc.