Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: A new autosomal recessive syndrome?

Doris Taha, Maha Barbar, Hassan Kanaan, John Williamson Balfe

Research output: Contribution to journalArticlepeer-review

49 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)269-273
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume122 A
Issue number3
DOIs
StatePublished - Oct 15 2003

Keywords

  • Cholestasis
  • Diabetes mellitus
  • Glaucoma
  • Hypothyroidism
  • Polycystic kidneys

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