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一种罕见的关联:Silver-Russell综合征与异位甲状腺。

An Unusual Association: Silver-Russell Syndrome and Ectopic Thyroid.

作者信息

Lahmamssi Fatima-Zahra, Saadaoui Loubna, Aynaou Hayat, Salhi Houda, El Ouahabi Hanan

机构信息

Department of Endocrinology, Diabetology, Metabolic Diseases and Nutrition, Hassan II University Hospital, Fes, MAR.

Laboratory of Epidemiology and Research in Health Sciences, Faculty of Medicine and Pharmacy, Sidi Mohamed Ben Abdellah University, FES, MAR.

出版信息

Cureus. 2022 May 9;14(5):e24837. doi: 10.7759/cureus.24837. eCollection 2022 May.

Abstract

Silver-Russell syndrome (SRS) is a rare genetic disorder that combines intrauterine growth retardation, facial dysmorphia, and limb asymmetry. We report the case of a patient diagnosed with SRS on a cluster of clinical arguments, associated with thyroid dysgenesis. We report the case of a 16-year-old patient diagnosed with SRS based on the following clinical findings: hypotrophy at birth, severe stature-ponderal delay (-4DS), hemihypertrophy of the body, macrocephaly, and prominent forehead with severe psychomotor and intellectual delay (IQ < 70). The Netchine-Harbison score is rated at 6/6, hence the performance of a molecular study, the results of which are in progress. Biological and radiological exploration has objectified deep hypothyroidism on a sublingual thyroid for which he was treated with a hormone replacement therapy with L-thyroxine. This association has never been reported in the literature. We report through this case the interest in a morphological assessment in search of other anomalies, which can be associated to improve the management of SRS.

摘要

Silver-Russell综合征(SRS)是一种罕见的遗传性疾病,其特征为宫内生长迟缓、面部畸形和肢体不对称。我们报告一例基于一系列临床证据诊断为SRS且伴有甲状腺发育不全的患者。我们报告一名16岁患者,根据以下临床特征诊断为SRS:出生时发育不良、严重的身高-体重延迟(-4DS)、身体半侧肥大、巨头畸形、前额突出以及严重的精神运动和智力发育迟缓(智商<70)。Netchine-Harbison评分为6/6,因此进行了分子研究,其结果正在等待中。生物学和放射学检查证实为舌下甲状腺导致的严重甲状腺功能减退,患者接受了左甲状腺素激素替代治疗。这种关联在文献中从未有过报道。我们通过这个病例报告了进行形态学评估以寻找其他可能相关异常的意义,这有助于改善SRS的治疗管理。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7376/9186401/37d09d8b260e/cureus-0014-00000024837-i01.jpg

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