Sensenbrenner syndrome: A new member of the hepatorenal fibrocystic family

Marco Zaffanello, Francesca Diomedi-Camassei, Maria Luisa Melzi, Giuliano Torre, Francesco Callea, Francesco Emma

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)2336-2340
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume140
Issue number21
DOIs
Publication statusPublished - Nov 1 2006

Keywords

  • Cranioectodermal dysplasia
  • Ductal plate liver malformations
  • Hepatorenal fibrocystic syndrome
  • Sensenbrenner syndrome
  • Tubulo-interstitial nephropathy

ASJC Scopus subject areas

  • Genetics(clinical)

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