Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 140A, Issue 21, Pages 2336-2340Publisher
WILEY-LISS
DOI: 10.1002/ajmg.a.31464
Keywords
cranioectodermal dysplasia; Sensenbrenner syndrome; tubulo-interstitial nephropathy; ductal plate liver malformations; hepatorenal fibrocystic syndrome
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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. (c) 2006 Wiley-Liss, Inc.
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