Pfeiffer syndrome
|
Descargar SCORM
Este recurso ha sido solicitado 1 veces (0 veces en los últimos 31 días).
Para poder solicitar este recurso debe identificarse como usuario de la biblioteca
|
| |
Ver
Detalles del recurso
|
|
|
Pfeiffer syndrome
|
| Id. |
6181283 |
| Idioma |
inglés
|
| Titulo |
Pfeiffer syndrome |
| Autor(es) |
Vogels, Annick
Fryns, Jean-Pierre
|
| Localización |
http://www.pubmedcentral.gov/articlerender.fcgi?artid=1482682
|
| Versión |
1.0 |
| Estado |
Final
|
| Descripción |
Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three clinical subtypes. Type 1 "classic" Pfeiffer syndrome involves individuals with mild manifestations including brachycephaly, midface hypoplasia and finger and toe abnormalities; it is associated with normal intelligence and generally good outcome. Type 2 consists of cloverleaf skull, extreme proptosis, finger and toe abnormalities, elbow ankylosis or synostosis, developmental delay and neurological complications. Type 3 is similar to type 2 but without a cloverleaf skull. Clinical overlap between the three types may occur. Pfeiffer syndrome affects about 1 in 100,000 individuals. The disorder can be caused by mutations in the fibroblast growth factor receptor genes FGFR-1 or FGFR-2. Pfeiffer syndrome can be diagnosed prenatally by sonography showing craniosynostosis, hypertelorism with proptosis, and broad thumb, or molecularly if it concerns a recurrence and the causative mutation was found. Molecular genetic testing is important to confirm the diagnosis. Management includes multiple-staged surgery of craniosynostosis. Midfacial surgery is performed to reduce the exophthalmos and the midfacial hypoplasia.
|
| Palabras clave |
Review
|
| Tipo de recurso |
Text
|
| Tipo de Interactividad |
Expositivo
|
| Nivel de Interactividad |
muy bajo
|
| Audiencia |
Estudiante
Profesor
Autor
|
| Estructura |
Atomic |
| Coste |
no
|
| Copyright |
sí
|
| Requerimientos técnicos |
Browser: Any
|
| Fecha de contribución |
02-dic-2006 |
| Contacto |
|
|
|
|
|
Valoración de los usuarios
No hay ninguna valoración para este recurso. Sea el primero en
valorar este recurso.
|
|
|
|
