劳林-桑德罗综合征-文献综述及分类系统。

IF 0.4 4区 医学 Q4 GENETICS & HEREDITY
Cezar Buzea, Nathalie Boulanger
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引用次数: 0

摘要

Laurin-Sandrow综合征又称四足镜像多指畸形,是一种罕见的先天性疾病,典型特征为手、镜像足多指畸形和鼻畸形(鼻翼和小柱发育不全),常伴有尺骨和/或腓骨重复。作为一种病理实体,它是异质性的,患者表现出多种症状。本文旨在从临床表现、治疗方法等方面分析劳林-桑德罗综合征的主要特点。材料和方法:本综述基于PubMed、Web of Science and Researchgate对以下术语的搜索:“Laurin-Sandrow综合征”、“镜像手”、“镜像脚”、“四聚镜像多指”、“腓骨双足”和“尺骨双足”。纳入临床病例、综述和原创文章。结果:根据我们的研究结果,我们建议对镜像手-多手光谱的Al-Qattan分类系统进行修改。结论:尽管发病率极低,但对该综合征的充分了解,使外科医生能够选择合适的治疗方法,最终目的是提高患者的生活质量。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
"Laurin-Sandrow Syndrome - a review of the literature and classification system".

Introduction: Laurin-Sandrow syndrome also known as tetramelic mirror-image polydactyly is a rare congenital disorder characterized classically by polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short columella) often associated with ulnar and/or fibular duplication. As a pathologic entity, it is heterogeneous, the patients displaying a variety of symptoms. This review aims to analyze the different aspects of the condition, such as clinical findings and methods of treatment to summarize the principal features of Laurin-Sandrow syndrome.

Materials and methods: The review is based on searches on PubMed, Web of Science and Researchgate of the following terms: "Laurin-Sandrow syndrome", "mirror hands", "mirror feet", "tetramelic mirror-image polydactyly", "fibular dimelia" and "ulnar dimelia". Clinical cases, reviews and original articles were included.

Results: As a consequence of our findings, we suggest a modification of the Al-Qattan classification system for Mirror Hand-Multiple Hand Spectrum.

Conclusion: Even though it has an extremely low incidence, a thorough understanding of the syndrome enables the surgeon to choose the appropriate treatment with the ultimate goal to improve the patient's life quality.

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来源期刊
Clinical Dysmorphology
Clinical Dysmorphology 医学-遗传学
CiteScore
1.20
自引率
0.00%
发文量
64
审稿时长
6-12 weeks
期刊介绍: Clinical Dysmorphology publishes succinct case reports on the etiology, clinical delineation, genetic mapping, and molecular embryology of birth defects. This journal covers such topics as multiple congenital anomaly syndromes - with particular emphasis on previously undescribed conditions, rare findings, ethnic differences in existing syndromes, fetal abnormalities, and cytogenetic aberrations that might give clues to the localization of developmental genes. Regular features include original, peer-reviewed articles, conference reports, book and software reviews, abstracts and summaries from the UK Dysmorphology Club, and literature summaries. Submitted articles undergo a preliminary review by the editor. Some articles may be returned to authors wihtout further consideration. Those being considered for publication will undergo further assessment and peer-review by the editors and those invited to do so from a reviewer pool.
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