Apert syndrome: prenatal diagnosis challenge

Vieira, Catarina; Teixeira, Neusa; Cadilhe, Alexandra; Reis, Isabel

doi:10.1136/bcr-2019-231982

Cited by 8 publications

(2 citation statements)

References 3 publications

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“…AS accounts for 4.5% of all occurrences of craniosynostosis, with an incidence rate of 6-15 cases per one million live births [5]. Its prevalence spans without a gender-based predilection.…”

Section: Review Epidemiology and Geneticsmentioning

confidence: 99%

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Kumari,

Saleh,

Taslim

et al. 2023

Cureus

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Apert syndrome (AS), also known as type I acrocephalosyndactyly, is a rare congenital condition characterized by craniosynostosis resulting from missense mutations in the fibroblast growth factor receptor 2 (FGFR2) gene. This comprehensive review delves into AS, covering its clinical manifestations, genetics, diagnosis, medical management, psychosocial considerations, and future research directions. AS presents with distinct features, including a brachycephalic skull, midface hypoplasia, and limb anomalies such as syndactyly. It follows an autosomal dominant inheritance pattern with mutations in the FGFR2 gene. Prenatal diagnosis is possible through advanced imaging techniques and molecular testing. The multidisciplinary approach to AS management involves surgical interventions, orthodontics, and psychological support. Although no curative treatment exists, early interventions can significantly improve function and aesthetics. The quality of life for AS patients is influenced by psychosocial factors, necessitating comprehensive support for both patients and their families. Future research directions include gene therapy, understanding cellular responses to FGFR2 mutations, and addressing genetic heterogeneity. Collaborative efforts are vital to advancing knowledge about AS and its genetic underpinnings. Overall, this review serves as a valuable resource for healthcare professionals, educators, and researchers, contributing to a deeper understanding of AS and facilitating advancements in diagnosis and treatment.

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Section: Review Epidemiology and Geneticsmentioning

confidence: 99%

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Kumari,

Saleh,

Taslim

et al. 2023

Cureus

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“…Infelizmente nessa síndrome, o histórico familiar não possui muita influência devido a sua incidência esporádica tornando ainda mais difícil a suspeição pré-natal (6).…”

Section: Relato De Casounclassified

Sindrome De Apert Associada a Persistência Do Cisto De Blake: Uma Associação Clínica Rara

Bagodi Missura,

Beatriz de Carvalho,

Caroline de Lima Ferreira

et al. 2023

RECIMA21

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A Síndrome Apert é uma doença genética rara que pode ser chamada também de acrocefalossindactilia. É definida geneticamente como doença hereditária autossômica dominante relacionada a mutações do gene receptor do fator de crescimento de fibroblasto 2, o FGFR2. O diagnóstico da Síndrome de Apert é estabelecido na identificação clínica da tríade de Apert associada ou não a identificação por mapeamento genético do heterozigoto patológico da variante no FGFR2. O plano de tratamento da síndrome, considerando suas variáveis de apresentação. O presente trabalho teve como objetivo demonstrar detalhes descritos na literatura sobre síndrome de Apert, através de um relato de caso. Paciente sexo masculino com 8 horas de vida é encaminhado ao serviço de um hospital universitário apresentando alterações anatômicas em crânio, membros inferiores e superiores e face identificadas como fácies sindrômica, macrocrania com frontal proeminente, fontanelas amplas e achatamento occipital, sindactilia universal, pé torto congênito bilateral, base nasal baixa, órbitas rasas, palato ogival. Conclui-se que as características clínicas do paciente estão de acordo com as características relatadas na literatura para a síndrome, sendo diagnosticado com Sindrome de Apert. O plano de tratamento da síndrome, considerando suas variáveis de apresentação, deve ser multidisciplinar combinando as abordagens de ortodontia, ortopedia, neurocirurgia pois isso fundamenta os melhores resultados tanto estéticamente quanto funcionais para os portadores da síndrome.

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Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

Tonni

Grisolia

Baldi

et al. 2020

Fetal and Pediatric Pathology

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Apert syndrome: prenatal diagnosis challenge

Cited by 8 publications

References 3 publications

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers

Sindrome De Apert Associada a Persistência Do Cisto De Blake: Uma Associação Clínica Rara

Early Prenatal Ultrasound and Molecular Diagnosis of Apert Syndrome: Case Report with Postmortem CT-Scan and Chondral Plate Histology

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