假性软骨发育不良的自然史研究:关注口腔健康。

IF 1.6 4区 医学 Q4 DEVELOPMENTAL BIOLOGY Birth Defects Research Pub Date : 2024-07-17 DOI:10.1002/bdr2.2378
Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht
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引用次数: 0

摘要

背景:假性软骨发育不良(PSACH)是一种罕见的侏儒症,以四肢和手指短小、多种骨骼异常/并发症为特征。有关假性软骨发育不全(PSACH)患者医疗问题的自然史研究很少,这在许多领域,尤其是口腔健康方面留下了空白。我们的研究旨在获取 PSACH 患者口腔健康和其他健康相关问题(怀孕和分娩、骨骼健康、关节疼痛)的相关信息:为了确定这些信息,我们向 "美国小伙伴"(一个互助小组)的成员分发了一份在线Qualtrics调查问卷,并通过PSACH在线聊天室进行了调查:结果:115 份调查中有 99 份完成,并纳入了描述性分析和多变量分析。PSACH患者经常寻求牙科治疗,但由于手指短,使用牙线很困难。与普通人群相比,龋齿(5%)、牙龈出血(16%)、咬合不正(37%)、阻塞性睡眠呼吸暂停(9%)和颞下颌关节紊乱(3%)的发生率较低。在分娩的女性受访者中,100% 的人都是通过剖腹产分娩的。弓形腿(74%)、脊柱侧弯(43%)和骨关节炎(36%)是最常见的骨骼并发症。85%的受访者报告了关节疼痛:这项研究为口腔健康、怀孕和分娩提供了新的视角,同时证实了之前在 PSACH 中发现的骨骼并发症。我们的研究结果表明,PSACH 患者的口腔保健面临着独特的挑战。
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Natural history study of Pseudoachondroplasia: A focus on oral health

Background

Pseudoachondroplasia (PSACH) is a rare dwarfing condition characterized by short limbs and fingers, and multiple skeletal abnormalities/complications. There are few natural history studies delineating the medical problems in PSACH leaving a gap in many areas, especially oral health. Our study aimed to obtain information pertaining to oral health and other health-related problems (pregnancy and childbirth, skeletal health, joint pain) in patients with PSACH.

Methods

To ascertain this information, an online Qualtrics survey was distributed to members of Little People of America, a support group, and through a PSACH online chatroom.

Results

Ninety-nine of 115 surveys were completed and included in the descriptive and multivariable analyses. PSACH individuals regularly sought dental care, but flossing was challenging because of short fingers. Untreated carries (5%), bleeding gums (16%) malocclusion (37%), obstructive sleep apnea (9%), and TMJ disorder (3%) occurred less frequently compared to the general population. Delivery was by Caesarean section in 100% of female respondents who delivered a baby. Bowlegs (74%), scoliosis (43%) and osteoarthritis (36%) were the most common skeletal complications. Joint pain was reported by 85% of respondents.

Conclusions

This study provides novel insights into oral health, pregnancy and childbirth while confirming previously identified skeletal complications in PSACH. Our findings suggest that oral healthcare in PSACH presents unique challenges.

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来源期刊
Birth Defects Research
Birth Defects Research Medicine-Embryology
CiteScore
3.60
自引率
9.50%
发文量
153
期刊介绍: The journal Birth Defects Research publishes original research and reviews in areas related to the etiology of adverse developmental and reproductive outcome. In particular the journal is devoted to the publication of original scientific research that contributes to the understanding of the biology of embryonic development and the prenatal causative factors and mechanisms leading to adverse pregnancy outcomes, namely structural and functional birth defects, pregnancy loss, postnatal functional defects in the human population, and to the identification of prenatal factors and biological mechanisms that reduce these risks. Adverse reproductive and developmental outcomes may have genetic, environmental, nutritional or epigenetic causes. Accordingly, the journal Birth Defects Research takes an integrated, multidisciplinary approach in its organization and publication strategy. The journal Birth Defects Research contains separate sections for clinical and molecular teratology, developmental and reproductive toxicology, and reviews in developmental biology to acknowledge and accommodate the integrative nature of research in this field. Each section has a dedicated editor who is a leader in his/her field and who has full editorial authority in his/her area.
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