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安徒生-陶威尔综合征与甲状腺功能减退症:一例罕见关联的病例报告

Andersen-Tawil Syndrome and Hypothyroidism: A Case Report with an Unusual Association.

作者信息

Saalim Mohd, Karjodkar Freny R, Sansare Kaustubh P, Sharma Sneha R

机构信息

Department of Oral Medicine and Radiology, Nair Hospital Dental College, Mumbai, Maharashtra, India.

出版信息

Int J Appl Basic Med Res. 2019 Jul-Sep;9(3):179-181. doi: 10.4103/ijabmr.IJABMR_164_18.

DOI:10.4103/ijabmr.IJABMR_164_18
PMID:31392183
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6652273/
Abstract

Andersen-Tawil syndrome (ATS) is an autosomal dominant disorder, characterized by the triad of muscular paralysis, skeletal, and craniofacial anomalies and prolonged QT interval on echocardiogram with a tendency toward malignant ventricular arrhythmia. Although the patient may express one or two of the three components of triad, hypothyroidism is an endocrine disorder resulting in the delayed eruption of teeth, defective mineralization of bone and teeth, and speech and hearing deformity. Here, we report a case of ATS with hypothyroidism. To the best of authors' knowledge, no such association has been reported in the literature.

摘要

安徒生-陶威尔综合征(ATS)是一种常染色体显性疾病,其特征为三联征,即肌肉麻痹、骨骼及颅面异常,以及超声心动图显示QT间期延长并有恶性室性心律失常倾向。尽管患者可能仅表现出三联征中的一两项,但甲状腺功能减退是一种内分泌疾病,可导致出牙延迟、骨骼和牙齿矿化缺陷以及言语和听力畸形。在此,我们报告一例合并甲状腺功能减退的ATS病例。据作者所知,文献中尚未报道过此类关联。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/cec46eed656c/IJABMR-9-179-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/187758857aeb/IJABMR-9-179-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/aecd7b5c8ff9/IJABMR-9-179-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/d4ce7d9e7904/IJABMR-9-179-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/cec46eed656c/IJABMR-9-179-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/187758857aeb/IJABMR-9-179-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/aecd7b5c8ff9/IJABMR-9-179-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/d4ce7d9e7904/IJABMR-9-179-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/182a/6652273/cec46eed656c/IJABMR-9-179-g004.jpg

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本文引用的文献

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Thyroid hormone receptor α mutation causes a severe and thyroxine-resistant skeletal dysplasia in female mice.甲状腺激素受体α突变在雌性小鼠中导致严重的甲状腺素抵抗性骨骼发育不良。
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