Sindrome de apert / Opening syndrome
Rev. ecuat. pediatr
; 17(2): 39-42, 12-2016.
Article
in Es
| LILACS
| ID: biblio-996596
Responsible library:
EC150
RESUMEN
El síndrome de Apert, o acrocefalosindactilia tipo I, es un síndrome caracterizado por craneosinostosis, acompañada de sindactilia simétrica en las cuatro extremidades, alteraciones maxilofaciales, cutáneas y retardo mental variable. Este síndrome se debe a una mutación en el gen del receptor 2 del factor del crecimiento FIbroblástico (FGFR2), el cual se expresa de manera autosómica dominante (AD). Caso Clínico Se presenta caso de recién nacido masculino, Capurro de 38 semanas aproximadamente, con las características fenotípicas clásicas de este síndrome(como) la acrocefalia y la sindactilia en manos y pies.
ABSTRACT
Apert syndrome, or acrocephalosyndactyly type I, is a syndrome characterized by craniosynostosis, syndactyly accompanied symmetrical in all four extremities, maxillofacial abnormalities, mental retardation, skin and variable. This syndrome is caused by a mutation in the gene for the receptor 2 broblástico growth factor (FGFR2), which is expressed as an autosomal dominant (AD). Case Report We report the case of a newborn male, approximately 38 weeks Capurro, with classical phenotypic features of this syndrome as acrocephaly and syndactyly of hands and feet.
Key words
Full text:
1
Index:
LILACS
Main subject:
Acrocephalosyndactylia
/
Craniosynostoses
/
Receptor, Fibroblast Growth Factor, Type 2
Limits:
Humans
/
Male
/
Newborn
Language:
Es
Journal:
Rev. ecuat. pediatr
Journal subject:
Pediatria
/
Sa£de da Criana
Year:
2016
Type:
Article