Apert Syndrome: challenges from prenatal diagnosis to treatment with an emphasis on genetics
DOI:
https://doi.org/10.33448/rsd-v11i4.27933Keywords:
Apert syndrome; Craniosynostosis; Fronto-orbital advancement; Hydrocephalus.Abstract
Introduction: The perfect definition is a definition of rare feet. Its management should be early and multidisciplinary. Almost all bones are stoid and have sagitted skulls and also coronal sagitoids. Methodology: The search platform on the following sites: SciELO, Brazilian Journal of Neurosurgery, Arquivos Ciência Saúde, American Journal of Neurosurgery, PUBLAB and PUBMED. The descriptors were: “Apert syndrome”; “Craniosynostosis”; “Fronto-orbital advancement” e and “Hydrocephalus”. Outcome and Discussion: The middle third of the face in Apert syndrome is underdeveloped and retruded; evaluation subset has a palatal. The hand in Apert syndrome always includes fusion of the three middle fingers; contact and the fifth finger are also sometimes involved. Its severity lies in the coexistence of several malformations with risk of chronic intracranial hypertension responsible for blindness and mental weakness. Multiple airway obstruction may be present and may be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal abnormalities. Nonprogressive ventriculomegaly is present in most true sets, with a small subset having hydrocephalus. A genetic alteration genitourinary tract alterations, true gastrointestinal malformations and genitourinary tract anomalies. Conclusion: Apert syndrome is one of the most serious craniofacial disorders. Most need a cranial vault surgery intervention, and many more need surgery. The need for average facial advancement is also very prevalent.
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Copyright (c) 2022 João Victor Carvalho da Paz; Luanna Oliveira Alves; Francisco Airton Veras de Araújo Júnior; Letícia Castro Freire ; Júlia Gomes Marques; Milena Dara Farias de Jesus Neves; Vinícius Santos Mendes Restier; Igor Penha Paz ; Ana Paula Beatriz Mendes Silva; Daniel Meira Nóbrega de Lima; Luís Carlos Machado e Silva; Amanda Barcelos Simili ; Beatriz de Sá Mota; Renata Bezerra Ferraz; Camila Melo de Freitas
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