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阿佩尔综合征：一例新病例报告及其治疗

Apert's Syndrome: Report of a New Case and its Management.

作者信息

Dixit Shweta, Singh Asha, Gs Mamatha, S Desai Rajiv, Jaju Prashant

机构信息

Postgraduate Student, Department of Pedodontics and Preventive Dentistry, Dr DY Patil Dental College and Hospital Pune, Maharashtra, India.

Professor and Director of Postgraduate Studies, Department of Pedodontics and Preventive Dentistry, Dr DY Patil Dental College and Hospital, Pune, Maharashtra, India.

出版信息

Int J Clin Pediatr Dent. 2008 Sep;1(1):48-53. doi: 10.5005/jp-journals-10005-1009. Epub 2008 Dec 26.

DOI:10.5005/jp-journals-10005-1009
PMID:25206089
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4086543/
Abstract

In this article, an interesting case of Apert syndrome in a 14-year-old boy with characteristic craniosynostosis, acrocephaly, midface hypoplasia, pharyngeal attenuation, ocular manifestations, and syndactyly of the hands and feet is presented. The case is discussed in the light of relevant literature. A precise clinical differentiation must be made since considerable overlap of the features of various other syndromes could give rise to difficulties in diagnosing this condition. Besides detection and timely recognition of the syndrome to allow adequate dental care, screening at periodic intervals is merited to improve the overall quality of life of these patients. Clinical relevanceThis paper highlights the importance of the dentist as well as the specialist in the recognition and oral care of children with this syndrome.Children with teeth of unusual anatomy present a challenge for conventional dentistry.It is important for a pedodontist to evaluate and intervene the malrelationship of the jaws to reduce the complexity of further orthodontic treatment. Objectives statement: The reader should understand the clinical implications of recognition of this syndrome and provision of early treatment, with a purpose to reducing the duration and complexity of further treatment.

摘要

本文介绍了一名14岁男孩患Apert综合征的有趣病例，该男孩具有典型的颅缝早闭、尖头畸形、面中部发育不全、咽部狭窄、眼部表现以及手足并指（趾）畸形。结合相关文献对该病例进行了讨论。由于各种其他综合征的特征存在相当大的重叠，可能会给这种疾病的诊断带来困难，因此必须进行精确的临床鉴别。除了检测并及时识别该综合征以提供充分的牙科护理外，定期筛查也有助于提高这些患者的整体生活质量。临床相关性本文强调了牙医以及专科医生在识别和口腔护理患有该综合征儿童方面的重要性。牙齿解剖结构异常的儿童给传统牙科带来了挑战。儿童牙医评估和干预颌骨的错颌关系以降低进一步正畸治疗的复杂性非常重要。目标陈述：读者应了解识别该综合征并提供早期治疗的临床意义，目的是减少进一步治疗的持续时间和复杂性。

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引用本文的文献

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Unraveling the Complexity of Apert Syndrome: Genetics, Clinical Insights, and Future Frontiers.解析阿佩尔综合征的复杂性：遗传学、临床见解及未来前沿
Cureus. 2023 Oct 18;15(10):e47281. doi: 10.7759/cureus.47281. eCollection 2023 Oct.
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Apert Syndrome: Dental management considerations and objectives.阿佩尔综合征：牙科治疗的考量与目标
J Oral Biol Craniofac Res. 2022 May-Jun;12(3):370-375. doi: 10.1016/j.jobcr.2022.04.002. Epub 2022 Apr 28.
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Dental approach for Apert syndrome in children: a systematic review.儿童Apert综合征的牙科治疗方法：一项系统评价

本文引用的文献

1
Dentofacial characteristics in Apert syndrome: a case report.Apert综合征的牙颌面特征：一例报告
J Indian Soc Pedod Prev Dent. 2002 Sep;20(3):118-23.
2
Craniosynostosis update 1987.1987年颅缝早闭研究进展
Am J Med Genet Suppl. 1988;4:99-148. doi: 10.1002/ajmg.1320310514.
Med Oral Patol Oral Cir Bucal. 2017 Nov 1;22(6):e660-e668. doi: 10.4317/medoral.21628.