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

17 Citations (Scopus)

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

Fingerprint

Liver
Hepatorenal Syndrome
Ectodermal Dysplasia
Genetic Databases
Dwarfism
Interstitial Nephritis
Nails
Chronic Kidney Failure
Liver Diseases
Tooth
Kidney
Biopsy
Enzymes
Cranioectodermal Dysplasia
Congenital Hepatic Fibrosis

Keywords

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

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Sensenbrenner syndrome : A new member of the hepatorenal fibrocystic family. / Zaffanello, Marco; Diomedi-Camassei, Francesca; Melzi, Maria Luisa; Torre, Giuliano; Callea, Francesco; Emma, Francesco.

In: American Journal of Medical Genetics, Part A, Vol. 140, No. 21, 01.11.2006, p. 2336-2340.

Research output: Contribution to journalArticle

Zaffanello, Marco ; Diomedi-Camassei, Francesca ; Melzi, Maria Luisa ; Torre, Giuliano ; Callea, Francesco ; Emma, Francesco. / Sensenbrenner syndrome : A new member of the hepatorenal fibrocystic family. In: American Journal of Medical Genetics, Part A. 2006 ; Vol. 140, No. 21. pp. 2336-2340.
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