A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies
Journal of the Korean Society of Neonatology
;
: 87-92, 2005.
Article
Dans Coréen
| WPRIM
| ID: wpr-85834
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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Radius
/
Pouce
/
Acrocéphalosyndactylie
/
Orteils
/
Syndactylie
/
Craniosynostoses
/
Hydrocéphalie
/
Ankylose
Limites du sujet:
Humains
/
Nouveau-né
langue:
Coréen
Texte intégral:
Journal of the Korean Society of Neonatology
Année:
2005
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS