Omkar Patel, S. Shahrukh Hashmi, Brett Chiquet, Jacqueline T. Hecht
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引用次数: 0
Abstract
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.
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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