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Floating-Harbor syndrome and celiac disease
1Department of Pediatrics, University of Manitoba, Winnipeg, Canada.
American Journal of Medical Genetics
|March 15, 1991
Summary
Floating-Harbor syndrome (FHS) is a rare genetic disorder. This case report highlights a potential link between FHS and celiac disease, suggesting further investigation into their association.
Area of Science:
- Genetics
- Pediatrics
- Gastroenterology
Background:
- Floating-Harbor syndrome (FHS) is a rare autosomal recessive disorder.
- FHS is characterized by developmental delay, short stature, speech impediment, and distinct facial features.
- Previous reports have noted celiac disease in one FHS case.
Purpose of the Study:
- To report a case of a 17-year-old female with FHS and celiac disease.
- To explore a potential association between FHS and celiac disease.
- To discuss the implications for understanding FHS as a disorder with potential pleiotropism.
Main Methods:
- Clinical case presentation.
- Review of patient's medical history, physical examination, and diagnostic tests.
- Histological examination for celiac disease confirmation.
Main Results:
- The patient presented with features consistent with FHS, including speech impediment, developmental delay, short stature, and facial anomalies.
- Clinical and histological evidence confirmed celiac disease in this patient.
- This finding is significant given that only one prior FHS case reported celiac disease.
Conclusions:
- The co-occurrence of FHS and celiac disease in this case warrants further investigation.
- A potential association between FHS and celiac disease may exist.
- This could indicate pleiotropic effects of the gene(s) responsible for FHS or a shared underlying mechanism.