Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?
2003; Wiley; Volume: 122A; Issue: 3 Linguagem: Inglês
10.1002/ajmg.a.20267
ISSN1552-4833
AutoresDoris Taha, Maha Barbar, Hassan D. Kanaan, John Williamson Balfe,
Tópico(s)Neonatal Health and Biochemistry
ResumoAbstract 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.
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