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Cohen syndrome: a connective tissue disorder?
K Méhes1, G Kosztolányi, M Kardos
1Department of Pediatrics, University Medical School, Pécs, Hungary.
American Journal of Medical Genetics
|September 1, 1988
Insights
Cohen syndrome in a young girl was associated with mitral valve prolapse and severe gastroesophageal reflux. These findings suggest a potential underlying connective tissue disorder.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Gastroenterology
Background:
- Cohen syndrome is a rare genetic disorder.
- Connective tissue abnormalities are not typically a primary feature of Cohen syndrome.
Observation:
- A 2-year-old girl with diagnosed Cohen syndrome presented with significant medical issues.
- The patient exhibited mitral valve prolapse and severe gastroesophageal reflux.
- A hiatal hernia was also identified in the patient.
Findings:
- The co-occurrence of these conditions in a child with Cohen syndrome is notable.
- The clinical presentation points towards a possible underlying connective tissue disorder.
Implications:
- This case highlights the importance of considering connective tissue disorders in patients with Cohen syndrome.
- Further investigation into the cardiovascular and gastrointestinal manifestations in Cohen syndrome may be warranted.
- Early identification of connective tissue abnormalities can guide patient management and improve outcomes.
Abstract:
Mitral valve prolapse and severe gastroesophageal reflux with hiatal hernia were found in a girl aged 2 years, 4 months with Cohen syndrome. The clinical manifestations suggest the presence of a connective tissue disorder in the patient.