A Case of Pfeiffer Syndrome with Hydrocephalus and Multiple Congenital Anomalies
Journal of the Korean Society of Neonatology
;
: 87-92, 2005.
Artigo
em Coreano
| 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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Rádio (Anatomia)
/
Polegar
/
Acrocefalossindactilia
/
Dedos do Pé
/
Sindactilia
/
Craniossinostoses
/
Hidrocefalia
/
Anquilose
Limite:
Humanos
/
Recém-Nascido
Idioma:
Coreano
Revista:
Journal of the Korean Society of Neonatology
Ano de publicação:
2005
Tipo de documento:
Artigo
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