Abstract |
The clinical phenotype of Schimke immunoosseous dysplasia ( SID) is characterized by growth retardation, renal failure, recurrent infections, cerebral infarcts, and skin pigmentation beginning in childhood. We report here on a 4-year-old male child who had all characteristic symptoms of SID, and, in addition, vomiting and prolonged diarrhea. The study results suggest that malabsorption, demonstrated as increased serum immunoglobulin A anti- gliadin antibody, steatorrhea and partial villous atrophy of the jejunal small bowel, is a previously unrecognized feature of SID.
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Authors | I Kaitila, E Savilahti, T Ormälä |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 77
Issue 5
Pg. 427-30
(Jun 05 1998)
ISSN: 0148-7299 [Print] United States |
PMID | 9632175
(Publication Type: Case Reports, Journal Article)
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Topics |
- Autoimmune Diseases
(genetics, pathology)
- Cerebral Infarction
(genetics)
- Child, Preschool
- Gastrointestinal Diseases
(genetics, immunology, pathology)
- Growth Disorders
(genetics, pathology)
- Humans
- Liver
(pathology)
- Male
- Osteochondrodysplasias
(genetics, pathology)
- Renal Insufficiency
(genetics, pathology)
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