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.
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.
摘要：
背景：假性软骨发育不全（PSACH）是一种罕见的侏儒症，其特征是四肢和手指短，和多种骨骼异常/并发症。很少有自然史研究描述PSACH中的医学问题，在许多领域留下了空白，尤其是口腔健康。我们的研究旨在获得有关口腔健康和其他健康相关问题的信息（怀孕和分娩，骨骼健康,关节疼痛）在PSACH患者中。
方法：为了确定这些信息，一项在线Qualtrics调查分发给了美国小人物的成员，一个支持小组，并通过PSACH在线聊天室。
结果：115项调查中有99项完成并纳入描述性和多变量分析。PSACH个人经常寻求牙齿护理，但是由于手指短，使用牙线很有挑战性。未经处理的携带（5%），牙龈出血（16%）错牙合畸形（37%），阻塞性睡眠呼吸暂停（9%），与普通人群相比，TMJ疾病（3％）的发生率较低。分娩的女性受访者中有100％是剖腹产。保龄球（74%），脊柱侧凸(43%)和骨关节炎(36%)是最常见的骨骼并发症。85%的受访者报告关节疼痛。
结论：这项研究为口腔健康提供了新的见解，怀孕和分娩，同时确认先前发现的PSACH骨骼并发症。我们的研究结果表明，PSACH的口腔保健面临着独特的挑战。
方法：为了确定这些信息，一项在线Qualtrics调查分发给了美国小人物的成员，一个支持小组，并通过PSACH在线聊天室。
结果：115项调查中有99项完成并纳入描述性和多变量分析。PSACH个人经常寻求牙齿护理，但是由于手指短，使用牙线很有挑战性。未经处理的携带（5%），牙龈出血（16%）错牙合畸形（37%），阻塞性睡眠呼吸暂停（9%），与普通人群相比，TMJ疾病（3％）的发生率较低。分娩的女性受访者中有100％是剖腹产。保龄球（74%），脊柱侧凸(43%)和骨关节炎(36%)是最常见的骨骼并发症。85%的受访者报告关节疼痛。
结论：这项研究为口腔健康提供了新的见解，怀孕和分娩，同时确认先前发现的PSACH骨骼并发症。我们的研究结果表明，PSACH的口腔保健面临着独特的挑战。
