TY - JOUR
T1 - Sensenbrenner syndrome
T2 - A new member of the hepatorenal fibrocystic family
AU - Zaffanello, Marco
AU - Diomedi-Camassei, Francesca
AU - Melzi, Maria Luisa
AU - Torre, Giuliano
AU - Callea, Francesco
AU - Emma, Francesco
PY - 2006/11/1
Y1 - 2006/11/1
N2 - 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.
AB - 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.
KW - Cranioectodermal dysplasia
KW - Ductal plate liver malformations
KW - Hepatorenal fibrocystic syndrome
KW - Sensenbrenner syndrome
KW - Tubulo-interstitial nephropathy
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U2 - 10.1002/ajmg.a.31464
DO - 10.1002/ajmg.a.31464
M3 - Article
C2 - 17022080
AN - SCOPUS:33750589804
SN - 1552-4825
VL - 140
SP - 2336
EP - 2340
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 21
ER -