小头型骨发育异常原始性侏儒症II型的临床表现和牙齿表现:1例报告

IF 0.3 Q4 PEDIATRICS
B. Nazemi Salman, Nazila Biglar, M. Mirkeshavarz, G. Ansari
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引用次数: 0

摘要

背景:2型小头性成骨异常原始性侏儒症(MOPD II)是一种罕见的无法治愈的遗传性疾病,其特征是严重的产前和产后生长迟缓、小头畸形、鸟头脸(前额和下巴后移、喙状鼻子和突出的眼睛)、骨骼异常、牙齿异常、毛发和皮肤异常变化、高音调的鼻音,以及胰岛素抵抗和脑血管疾病的风险增加。MOPDII是由心心包蛋白基因突变引起的,并以常染色体隐性方式遗传。本研究旨在报道一例MOPD II型儿童患者。病例介绍:一个7岁的女孩遗传诊断为MOPD II已提出在这个病例报告。临床,放射学和实验室的结果,重点是口腔特征已被报道,她的牙齿问题的管理也已被描述。结论:MOPD II型患者预期寿命较短。需要定期护理的主要健康并发症包括中枢神经系统的血管病变、糖尿病、肾脏问题、血压、心脏疾病和血液学特征。MOPD II型患者患龋齿的风险很高,因为他们由于小齿、少齿和咀嚼系统不健全而食用软质和易患龋齿的食物。另一方面,这类患者的牙科治疗可能非常具有挑战性。II型MOPD患者及其家属应意识到口腔卫生和常规牙科随访的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Clinical Findings and Dental Manifestations Associated With Microcephalic Osteodysplastic Primordial Dwarfism Type II: A Case Report
Background: Microcephalic Osteodysplastic Primordial Dwarfism type 2 (MOPD II) is a rare untreatable genetic disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, bird-headed face (receding forehead and chin, a beaklike nose, and prominent eyes), skeletal abnormalities, abnormal dentition, abnormal hair and skin changes, high-pitched nasal voice, and an increased risk for insulin resistance and cerebrovascular disease. MOPDII is caused by mutations in the pericentrin gene and is inherited in an autosomal recessive manner. This study aims to report a MOPD II child patient. Case Presentation: A seven-year-old girl genetically diagnosed with MOPD II has been presented in this case report. Clinical, radiological, and laboratory findings with emphasis on oral features have been reported, and her dental problems management has also been described. Conclusions: MOPD II patients have a shorter life expectancy. The main health complications which need regular care include vascular changes of the central nervous system, diabetes mellitus, renal problems, blood pressure, cardiac pathologies, and hematologic profile. MOPD II patients have a high risk of caries because they consume soft and cariogenic foods due to microdontia, oligodontia, and an incompetent masticatory system. On the other hand, dental treatment for such patients can be very challenging. MOPD II cases and their families should be aware of the importance of oral hygiene and routine dental follow-ups.
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