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A case of Pfeiffer syndrome
Moon Sung Park1, Jae Eon Yoo, Jaiho Chung
1Department of Pediatrics, Ajou University School of Medicine, Yongtong-gu, Suwon, Korea.
Journal of Korean Medical Science
|April 15, 2006
Summary
Pfeiffer syndrome, a rare genetic disorder, is reported for the first time in Korea. This case highlights key features like bicoronal craniosynostosis and limb abnormalities in a newborn.
Area of Science:
- Genetics
- Pediatrics
- Craniofacial Anomalies
Background:
- Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of skull bones.
- It affects craniofacial development and limb morphology, with varying prevalence globally.
- This condition is exceptionally rare in Asian populations and has not been documented in Korea.
Observation:
- A newborn presented with classic manifestations of Pfeiffer syndrome.
- Clinical observations included bicoronal craniosynostosis, broad thumbs and toes, and bilateral syndactyly.
- Additional findings were mild proptosis, choanal hypoplasia, and maxillary hypoplasia.
Findings:
- The case confirms the presence of Pfeiffer syndrome in a Korean infant, marking the first reported instance.
- The observed features align with the known phenotypic spectrum of Pfeiffer syndrome.
- This report contributes to the understanding of Pfeiffer syndrome's occurrence in diverse ethnic groups.
Implications:
- This case underscores the importance of recognizing Pfeiffer syndrome in neonates, regardless of ethnicity.
- Early diagnosis and management are crucial for improving outcomes in affected individuals.
- Further research is needed to explore potential genetic variations and prevalence in underrepresented populations.