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

被引:3
作者
Kumari, Kajol [1 ]
Saleh, Inam [2 ]
Taslim, Sanzida [3 ]
Ahmad, Sana [4 ]
Hussain, Iqbal [5 ,6 ]
Munir, Zainab [7 ]
Javed, Tamleel [7 ]
Virk, Muhammad Furqan Ismat [8 ]
Javed, Saleha [9 ]
Bisharat, Pakeezah [5 ]
Rehman, Ubaid Ur [10 ]
机构
[1] Jinnah Sindh Med Univ, Dent, Karachi, Pakistan
[2] Univ Kentucky, Paediat, Coll Med, Baltimore, MD USA
[3] Ross Univ, Psychiat, Sch Med, Bridgetown, Barbados
[4] TIME Org Inc, Psychiat, Baltimore, MD USA
[5] Khyber Med Univ, Internal Med, Peshawar, Pakistan
[6] Lady Reading Hosp, Internal Med, Peshawar, Pakistan
[7] Imran Idrees Teaching Hosp, Emergency Dept, Sialkot, Pakistan
[8] ABWA Hosp & Res Ctr, Paediat, Faisalabad, Pakistan
[9] Sheikh Zayed Hosp, Emergency Dept, Rahim Yar Khan, Pakistan
[10] Mayo Hosp, Internal Med, Lahore, Pakistan
关键词
future research; quality of life; psychosocial considerations; medical management; diagnosis; genetics; clinical manifestations; fgfr2; gene; craniosynostosis; apert syndrome; QUALITY-OF-LIFE; PRENATAL-DIAGNOSIS; ULTRASOUND; CRANIOSYNOSTOSIS; CHILDREN; FGFR2; PHENOTYPES; ANOMALIES;
D O I
10.7759/cureus.47281
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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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页数:7
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