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Abstract #10505 Published in IGR 6-1
Neonatal diabetes mellitus, congenital hypothyroidism, hepatic fibrosis, polycystic kidneys, and congenital glaucoma: a new autosomal recessive syndrome?
Taha D; Barbar M; Kanaan H; Williamson Balfe JAmerican Journal of Medical Genetics 2003; 122A: 269-273
The authors report on two siblings (of four) 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 siblings 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 siblings suggests the possibility that this combination of manifestations describes a new autosomal recessive syndrome. Mutation analysis for several candidate genes is warranted.
Dr. D. Taha, Division of Pediatric Endocrinology, King Faisal Specialist Hospital and Research Center, PO Box 40047, Jeddah 21499, Kingdom of Saudi Arabia. dtaha@hotmail.com
Classification:
9.1.1 Congenital glaucoma, Buphthalmos (Part of: 9 Clinical forms of glaucomas > 9.1 Developmental glaucomas)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)
