Síndrome de Apert: relato de dois casos e revisão de literatura
Apert's syndrome is the type I acrocephalosyndactyly. It was described by Apert, and is characterized by craniosynostosis with fusion of the cranial sutures and / or its base, associated with maxillary hypoplasy, symmetrical syndactyly of hands and feet and other systemic malformations. Mental de...
| Autor principal: | ALENCAR, Lecidio da Silva |
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| Outros Autores: | BAROSEIRO, Paula Jorgiane Leitão Diniz |
| Grau: | Trabalho de Conclusão de Curso - Graduação |
| Publicado em: |
2022
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| Assuntos: | |
| Acesso em linha: |
https://bdm.ufpa.br:8443/jspui/handle/prefix/4801 |
| Resumo: |
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Apert's syndrome is the type I acrocephalosyndactyly. It was described by Apert, and
is characterized by craniosynostosis with fusion of the cranial sutures and / or its
base, associated with maxillary hypoplasy, symmetrical syndactyly of hands and feet
and other systemic malformations. Mental deficiency is considered common for
patients with Apert’s syndrome and may be due to brain malformations, high
intracranial pressure or family inheritance. It is one of the five craniosynostosis
syndromes caused by mutations in alleles of growth factor for fibroblasts receptor 2.
The advanced paternal age has been implicated in reproductive and genetic
changes. The treatment of these patients is done in multidisciplinary order. Surgical
planning should be done in stages, where the purpose of decompression craniotomy
in brain should be performed in childhood. Correction of syndactyly and other
deformities can also be performed. To describe the case of two children with Apert
syndrome, contributing to the knowledge of disease and facilitating its diagnosis.
Apert’s syndrome can be evidenced by physical examination. Genetic counseling is
indicated. The prognosis depends on the severity of malformations. |