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Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?
Author(s) -
Taha Doris,
Barbar Maha,
Kanaan Hassan,
Williamson Balfe John
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20267
Subject(s) - congenital hepatic fibrosis , medicine , endocrinology , cystic fibrosis , polycystic kidney disease , kidney , diabetes mellitus , autosomal recessive polycystic kidney disease , pathology , portal hypertension , cirrhosis
We report on two sibs (of 4) with a syndrome of minor facial anomalies, proportionate IUGR, neonatal non‐autoimmune diabetes mellitus (NDM), severe congenital hypothyroidism (CH), cholestasis, congenital glaucoma, and polycystic kidneys. Liver disease progressed to hepatic fibrosis. The renal disease was characterized by large kidneys and multiple small cysts with deficient corticomedullary junction differentiation and normal kidney function. The phenotype observed in the two sibs was identical. Although a combination of liver, kidney, and pancreatic involvement has been described in Ivemark syndrome (hepato‐renal‐pancreatic syndrome), the coexistence of NDM, CH, and glaucoma in both sibs suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted. © 2003 Wiley‐Liss, Inc.