A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies.
- Author:
Ki Wook YUN
1
;
Kang Won RHEE
;
In Seok LIM
;
Eung Sang CHOI
;
Byung Hoon RYU
Author Information
1. Department of Pediatrics, College of Medicine, Chungang University, Seoul, Korea. inseok@cau.ac.kr
- Publication Type:Case Report
- Keywords:
Craniosynostosis;
Pfeiffer syndrome;
Midface hypoplasia;
FGFR;
Hydrocephalus
- MeSH:
Acrocephalosyndactylia*;
Ankylosis;
Craniosynostoses;
Humans;
Hydrocephalus*;
Infant, Newborn;
Radius;
Syndactyly;
Thumb;
Toes
- From:Journal of the Korean Society of Neonatology
2005;12(1):87-92
- CountryRepublic of Korea
- Language:Korean
-
Abstract:
Pfeiffer syndrome is one of a rare form of craniosynostosis syndrome, showing variable degree of craniosynostosis, midface hypoplasia, broad thumbs and toes and syndactyly. This is transmitted in autosomal dominant pattern and known to be related to mutations in FGFR (Fibroblast Growth Factor Receptor) 1 or FGFR 2. We experience a case of newborn Pfeiffer syndrome type 3 who had multiple facial anomalies, thumbs and great toes anomalies, ankylosis of radius and ulnar and hydrocephalus.
