A Case of Pfeiffer Syndrome.
10.3346/jkms.2006.21.2.374
- Author:
Moon Sung PARK
1
;
Jae Eon YOO
;
Jaiho CHUNG
;
Soo Han YOON
Author Information
1. Department of Pediatrics, Ajou University School of Medicine, Suwon, Korea.
- Publication Type:Case Report ; Review
- Keywords:
Acrocephalosyndactylia;
Craniosynostoses;
Syndactyly
- MeSH:
Korea;
Infant, Newborn;
Humans;
Female;
Acrocephalosyndactylia/*diagnosis/genetics/radiography/surgery
- From:Journal of Korean Medical Science
2006;21(2):374-378
- CountryRepublic of Korea
- Language:English
-
Abstract:
Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers and toes, mild proptosis, choanal hypoplasia and maxillary hypoplasia.
