Sensenbrenner syndrome: a new member of the hepatorenal fibrocystic family

Am J Med Genet A. 2006 Nov 1;140(21):2336-40. doi: 10.1002/ajmg.a.31464.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Child, Preschool
  • Craniofacial Abnormalities / genetics*
  • Ectodermal Dysplasia / genetics*
  • Genes, Recessive
  • Humans
  • Kidney / abnormalities*
  • Liver / abnormalities*
  • Liver / pathology
  • Male
  • Nephritis, Interstitial / genetics
  • Syndrome

Associated data

  • OMIM/218330