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降低孤立性腭裂相关畸形的延迟检出率:呼吁对新生儿进行常规口腔内检查。

Reducing delayed detection of isolated cleft palate-related deformity: a call for routine intraoral examination of newborns.

机构信息

Centro Avançado de Cirurgia Plástica Facial, A&D DermePlastique, São Paulo, SP, Brazil; Centro Universitário Max Planck (UniMAX), Faculdade de Medicina, Indaiatuba, SP, Brazil; Chang Gung Memorial Hospital, Craniofacial Research Center, Taoyuan, Taiwan.

Chang Gung Memorial Hospital, Craniofacial Research Center, Taoyuan, Taiwan; Chang Gung University, Chang Gung Memorial Hospital, Department of Plastic and Reconstructive Surgery, Taoyuan, Taiwan.

出版信息

J Pediatr (Rio J). 2024 Jul-Aug;100(4):350-359. doi: 10.1016/j.jped.2023.12.005. Epub 2024 Jan 30.

DOI:10.1016/j.jped.2023.12.005
PMID:38307119
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11331241/
Abstract

OBJECTIVE

To provide healthcare professional-friendly practical recommendations for early detection of cleft palate-related deformities in newborns and offer an overview of managing these high-prevalent congenital abnormalities.

SOURCE OF DATA

PubMed, SciELO, Lilacs, Cochrane, ScienceDirect, and Scopus databases were reviewed for cleft- and diagnosis-related studies.

SUMMARY OF THE FINDINGS

Unfortunately, the global prevalence of delayed detection of cleft palate-related deformities remains unacceptably high, with over a quarter of cleft palates missed at birth. This delayed identification causes physical and psychological distress for patients and families, including feeding challenges and weight faltering. To improve cleft management, it is essential to adopt routine detailed, in-depth intraoral examination immediately after birth. It is recommended not only to finger-assisted palpate the intraoral structures but also to visually inspect the oral cavity from gingiva to uvula using a wooden tongue depressor and light-assisted examination. With timely diagnosis and referral to specialized care, pediatricians, nurses, speech therapists, and plastic surgeons provide life-changing treatments, including health care maintenance, anticipatory guidance, feeding support, primary surgical reconstruction, and age- and condition-specific protocols.

CONCLUSIONS

Encouraging neonatologists and pediatricians, who are the first to examine newborns, to actively investigate the intraoral region for cleft palate-related deformities is instrumental in optimizing therapeutic approaches and prioritizing age-phases in treatment. Their crucial role in early detection and referral can lead to transformative outcomes, impacting not only the future of the newborns by facilitating functional integration into society but also yielding positive effects on families and the health system.

摘要

目的

为医疗保健专业人员提供有关新生儿腭裂相关畸形早期检测的实用建议,并概述这些高发先天性异常的管理方法。

资料来源

在 PubMed、SciELO、Lilacs、Cochrane、ScienceDirect 和 Scopus 数据库中检索了腭裂和诊断相关的研究。

研究结果总结

不幸的是,腭裂相关畸形延迟检测的全球发生率仍然高得令人无法接受,超过四分之一的腭裂在出生时被漏诊。这种延迟识别给患者和家庭带来了身体和心理上的困扰,包括喂养困难和体重下降。为了改善腭裂的管理,必须在出生后立即采用常规详细的深入口腔内检查。建议不仅要使用手指辅助触诊口腔内结构,还要使用木制压舌板和光辅助检查从牙龈到悬雍垂对口腔进行视觉检查。通过及时诊断和转介到专门的护理机构,儿科医生、护士、言语治疗师和整形外科医生提供改变生活的治疗方法,包括保健维护、预期指导、喂养支持、初级手术重建以及针对年龄和病情的特定方案。

结论

鼓励新生儿科医生和儿科医生积极检查新生儿的口腔内区域是否存在腭裂相关畸形,这对于优化治疗方法和确定治疗的年龄阶段至关重要。他们在早期检测和转介方面的关键作用可以带来变革性的结果,不仅对新生儿的未来产生积极影响,使他们能够更好地融入社会,而且对家庭和卫生系统也产生积极影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/146e69e9855d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/dfba58064e7f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/99566b963152/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/146e69e9855d/gr3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/dfba58064e7f/gr1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/99566b963152/gr2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0fe2/11331241/146e69e9855d/gr3.jpg

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Associated anomalies in Pierre Robin sequence.Pierre Robin 序列相关畸形。
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Psychosocial Outcomes in Children with Cleft Lip and/or Palate: Associations of Demographic, Cleft Morphologic, and Treatment-Related Variables.
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Cleft Palate Craniofac J. 2024 Nov;61(11):1784-1802. doi: 10.1177/10556656231181581. Epub 2023 Jun 22.
4
The performance of first-trimester ultrasound in diagnosing fetal cleft palate: Meta-analysis and systematic review.早孕期超声诊断胎儿腭裂的性能:Meta 分析和系统评价。
J Clin Ultrasound. 2023 Jul-Aug;51(6):1015-1023. doi: 10.1002/jcu.23507. Epub 2023 Jun 12.
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Prenatal Diagnosis of Pierre Robin Sequence and Its Prognosis: A Retrospective Cohort Study.皮埃尔·罗宾序列征的产前诊断及其预后:一项回顾性队列研究
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