1.
Journal of the Korean Society of Neonatology
;
: 87-92, 2005.
Artículo
en Coreano
| WPRIM
| ID: wpr-85834
RESUMEN
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.
Asunto(s)
Humanos , Recién Nacido , Acrocefalosindactilia , Anquilosis , Craneosinostosis , Hidrocefalia , Radio (Anatomía) , Sindactilia , Pulgar , Dedos del Pie
2.
Journal of the Korean Society of Plastic and Reconstructive Surgeons
;
: 252-257, 1992.
Artículo
en Coreano
| WPRIM
| ID: wpr-69815
3.
Journal of the Korean Society of Plastic and Reconstructive Surgeons
;
: 95-100, 1991.
Artículo
en Coreano
| WPRIM
| ID: wpr-229332