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Freeman-Sheldon syndrome: a case report
Gamze Aren1, Zuhal Yurdabakan, Ilknur Ozcan
1Department of Pedodontics, Faculty of Dentistry, University of Istanbul, Istanbul, Turkey. gamzearen@hotmail.com
Summary
Freeman-Sheldon syndrome, a rare genetic disorder, impacts facial and skeletal development. This case study details a 10-year-old male with characteristic "whistling face" and skeletal deformities.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- Freeman-Sheldon syndrome (FSS), also known as whistling-face syndrome, is a rare genetic disorder.
- It presents with distinctive facial and skeletal malformations.
- FSS can occur sporadically or be inherited in autosomal dominant or recessive patterns.
Observation:
- This report details a case of FSS in a 10-year-old male.
- The patient exhibited characteristic orofacial features, including microstomia causing a "whistling" appearance.
- Skeletal abnormalities, such as club feet and contractures of the fingers and hands, were also noted.
Findings:
- The primary findings in this case were significant orofacial and skeletal developmental abnormalities.
- Microstomia and a flattened facial profile were prominent.
- Congenital joint contractures and foot deformities were observed.
Implications:
- This case highlights the diverse clinical manifestations of Freeman-Sheldon syndrome.
- Understanding FSS is crucial for accurate diagnosis and management in pediatric cases.
- Further research into the genetic basis and treatment options for FSS is warranted.