Novel Clinical and Genetic Findings in Laurin-Sandrow Syndrome: A Case Report.

IF 0.8 4区医学 Q4 GENETICS & HEREDITY

Molecular Syndromology Pub Date : 2026-04-28 DOI:10.1159/000552214

Pankaj Prasun, Katelyn J Watkin

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引用次数: 0

Abstract

Introduction: Laurin-Sandrow syndrome is a very rare developmental disorder characterized by polysyndactyly of the hands and feet, as well as nasal anomalies. Often, there is associated ulnar and/or fibular duplication. It is caused by microduplications on chromosome 7q36 that encompass the Sonic hedgehog limb enhancer region, the zone of polarizing activity regulator sequence (ZRS).

Case presentation: We describe here an individual with triplication encompassing the ZRS region. In addition to the other characteristic features of this condition, he has an unerupted single central maxillary incisor tooth.

Conclusion: Laurin-Sandrow syndrome is caused by interrupted signaling of Sonic hedgehog pathway due to duplications encompassing its enhancer region (ZRS) on chromosome 7q36. ZRS plays a crucial role in limb development by regulating the Sonic hedgehog signaling. Nasal anomalies are well-recognized features of Laurin-Sandrow syndrome. Single median maxillary central incisor has not been described in Laurin-Sandrow syndrome, but it is associated with Sonic hedgehog signaling interruption. The presence of nasal anomalies and dental abnormality in Laurin-Sandrow syndrome may suggest a potential role of ZRS in craniofacial development beyond its known role in limb development.

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Laurin-Sandrow综合征的临床和遗传学新发现：1例报告。

Laurin-Sandrow综合征是一种非常罕见的发育障碍，其特征是手和脚多指，以及鼻腔异常。通常伴有尺骨和/或腓骨重复。它是由染色体7q36上包含Sonic hedgehog肢体增强子区域的微重复引起的，该区域是极化活性调节序列（ZRS）的区域。病例介绍：我们在这里描述了一个包含ZRS区域的三倍的个体。除了这种情况的其他特征外，他还有一颗未出牙的上颌中央门牙。结论：Laurin-Sandrow综合征是由7q36染色体上Sonic hedgehog通路增强子区（ZRS）的重复导致的信号中断引起的。ZRS通过调控Sonic hedgehog信号在肢体发育中起着至关重要的作用。鼻异常是Laurin-Sandrow综合征公认的特征。在Laurin-Sandrow综合征中尚未发现单中上颌中切牙，但它与Sonic hedgehog信号中断有关。Laurin-Sandrow综合征患者出现鼻腔异常和牙齿异常，这可能表明ZRS在颅面发育中的潜在作用超出了其在肢体发育中的已知作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Molecular Syndromology Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

1.70

自引率

9.10%

发文量

期刊介绍： ''Molecular Syndromology'' publishes high-quality research articles, short reports and reviews on common and rare genetic syndromes, aiming to increase clinical understanding through molecular insights. Topics of particular interest are the molecular basis of genetic syndromes, genotype-phenotype correlation, natural history, strategies in disease management and novel therapeutic approaches based on molecular findings. Research on model systems is also welcome, especially when it is obviously relevant to human genetics. With high-quality reviews on current topics the journal aims to facilitate translation of research findings to a clinical setting while also stimulating further research on clinically relevant questions. The journal targets not only medical geneticists and basic biomedical researchers, but also clinicians dealing with genetic syndromes. With four Associate Editors from three continents and a broad international Editorial Board the journal welcomes submissions covering the latest research from around the world.