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Am J Med Genet. 2002 Aug 1;111(2):187-90.

Wolcott-Rallison syndrome in two siblings with isolated central hypothyroidism.

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1
Section of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. Binabbas@yahoo.com

Abstract

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. Clinical presentation and radiological features are suggestive of Wolcott-Rallison syndrome, a rare autosomal recessive disease. In both of our cases we found evidence of central hypothyroidism, which appears to be an associated feature of this syndrome. Hypothyroidism should be suspected and screened for in all cases of Wolcott-Rallison syndrome.

PMID:
12210348
DOI:
10.1002/ajmg.10495
[Indexed for MEDLINE]
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