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首页> 外文期刊>Case Reports in Pediatrics >Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma
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Multiple Sulfatase Deficiency (MSD): Review of the Literature and Case Reports of Two Siblings with Dental Caries and Trauma

机译：多种硫酸酶缺乏（MSD）：审查与龋齿和创伤的两个兄弟姐妹的文献和病例报告

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摘要

Multiple sulfatase deficiency (MSD) (MIM # 272200) is an extraordinarily rare inborn error of metabolism (IEM). The phenotypic spectrum is largely heterogeneous and attributed to the combined effects of deficiencies in the nine sulfatases currently known to be related to human diseases. Systemic sequelae of MSD are vast and multisystemic, primarily encompassing developmental delay and neurological, cardiopulmonary, dermatological, gastroenterological, and skeletal manifestations. The dental phenotype is scarcely described in the literature due to a paucity of cases. Dental treatment under local and general anaesthesia mandates an integrated multidisciplinary approach to safeguard systemic health and optimise outcomes. This paper presents two siblings with multiple sulfatase deficiency who presented to the Paediatric Dental Department at Great Ormond Street Hospital, requiring comprehensive care under general anaesthesia for dental caries and trauma.
机译：多重硫酸酶缺乏（MSD）（MIM＃272200）是代谢的异常罕见的天生误差（IEM）。 表型光谱很大程度上是异质的，并且归因于目前已知有关人类疾病的九个硫酸酯中的缺陷的综合影响。 MSD的系统性后遗症是巨大而多元结构，主要包括发育延迟和神经系统，心肺，皮肤病学，胃肠病学和骨骼表现。 由于病例不佳，文献中几乎没有描述牙科表型。 本地和全身麻醉下的牙科治疗授权综合多学科方法，以保护全身健康和优化结果。 本文展示了两种兄弟姐妹，具有多种硫酸酶缺乏，呈现给伟大的奥蒙德街医院的小儿牙科课程，需要在全身麻醉下进行全面的护理，为龋齿和创伤。

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