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一例罕见的 Shprintzen-Goldberg 综合征。

A Rare Case Of Shprintzen-Goldberg Syndrome.

机构信息

Ophthalmology Department, Amanat Eye Hospital, Islamabad, Pakistan.

Department of Oral Medicine and Radiology, KUHS university, Government Dental College Kottayam, India.

出版信息

J Ayub Med Coll Abbottabad. 2021 Jan-Mar;33(1):155-158.

Abstract

Shprintzen-Goldberg syndrome is a relatively rare congenital connective tissue type of disorder with a constellation of dysmorphic features including craniosynostosis, craniofacial, skeletal, cardiovascular and neurological abnormalities. We present the case-report of a 5-year-old boy with Shprintzen-Goldberg syndrome and a brief review of literature pertaining to this condition. The patients with Shprintzen-Goldberg syndrome show a considerable phenotypic overlap with other craniosynostosis syndromes. So, a meticulous evaluation of these patients should be performed for a prudent diagnosis. Since these patients present with multiple systemic conditions,a multidisciplinary approach should be planned for their management.

摘要

施特岑伯格-高伯格综合征是一种相对罕见的先天性结缔组织疾病,具有多种畸形特征,包括颅缝早闭、颅面、骨骼、心血管和神经异常。我们报告了一例 5 岁男孩患有施特岑伯格-高伯格综合征的病例,并简要回顾了相关文献。患有施特岑伯格-高伯格综合征的患者与其他颅缝早闭综合征有相当大的表型重叠。因此,应对这些患者进行细致的评估,以做出谨慎的诊断。由于这些患者存在多种系统性疾病,应计划采用多学科方法进行治疗。

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