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PMID: 12210348 Published · ppublish English Case Reports Journal Article

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

American journal of medical genetics ·Vol. 111 ·No. 2 ·2002-08-01 ·Pages 187-90

Bin-Abbas B, Al-Mulhim A, Al-Ashwal A

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.

MeSH Terms
Child, Preschool Developmental Disabilities/etiology,genetics Diabetes Mellitus, Type 1/complications,diagnosis Epiphyses/abnormalities,diagnostic imaging Female Hepatitis/etiology,genetics,pathology Humans Hyperglycemia/etiology,genetics,pathology Hypothyroidism/etiology,genetics Male Osteochondrodysplasias/complications,diagnostic imaging Radiography Renal Insufficiency/etiology,genetics Syndrome
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Bin-Abbas Bassam
Section of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. [email protected]
Al-Mulhim Abdulmohsen
Al-Ashwal Abdullah
Article Info
Journal
American journal of medical genetics
Abbr.
Am J Med Genet
ISSN
0148-7299
Published
2002-08-01
Pages
187-90
Language
English
Region
United States
NLM ID
7708900
Subset
IM
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