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一例裂手裂足畸形的罕见病例报告

A Rare Case Report of Split Hand and Foot Malformation.

作者信息

Pindaria Kuldeep Prakashchandra, Malik Ipanshu, Dua Kartik, Sojitra Vasu, Solanki Praveen, Chaliawala Yash

机构信息

Department of Orthopaedic Surgery, Faculty of Medicine and Health Sciences, SGT University, Gurugram, Haryana, India.

出版信息

J Orthop Case Rep. 2023 Apr;13(4):49-52. doi: 10.13107/jocr.2023.v13.i04.3612.

DOI:10.13107/jocr.2023.v13.i04.3612
PMID:37193374
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10182584/
Abstract

INTRODUCTION

Authors report a rare case report about split hand and foot malformation (SHFM) also sometimes referred to as ectrodactyly.

CASE REPORT

The patient with hand and foot malformations presented to casualty. A 60-year-old male was brought with alleged history of road traffic accident with tenderness and deformity in left thigh. On further physical examination, a malformation was present in bilateral feet and right hand. Plain radiographs were taken after emergency primary management which revealed a fracture of shaft of femur of the left side and absence of 2nd and 3rd phalanges in bilateral feet and lobster claw like malformation in the right hand. The patient was further investigated and operated with femur interlocking nail and later discharged under stable condition. Screening for other congenital defects was done.

CONCLUSION

Patients with SHFM should undergo screening for other congenital anomalies. Electrocardiogram, 2D ECHO, chest radiograph, and ultrasonography abdomen should be done. Genetic analysis ideally should be done to identify mutations involved. Surgical intervention is only required when patient demands improved function of limb.

摘要

引言

作者报告了一例罕见的手足裂畸形(SHFM)病例,该畸形有时也被称为缺指(趾)畸形。

病例报告

一名患有手足畸形的患者前来急诊。一名60岁男性因据称的道路交通事故被送来,左大腿有压痛和畸形。进一步体格检查发现双侧足部和右手存在畸形。在进行紧急初步处理后拍摄了X线平片,结果显示左侧股骨干骨折,双侧足部第二和第三趾骨缺如,右手呈龙虾爪样畸形。对患者进行了进一步检查,并采用股骨交锁髓内钉进行手术,随后在病情稳定后出院。对其他先天性缺陷进行了筛查。

结论

SHFM患者应接受其他先天性异常的筛查。应进行心电图、二维超声心动图、胸部X线片和腹部超声检查。理想情况下应进行基因分析以确定相关突变。仅在患者要求改善肢体功能时才需要进行手术干预。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/f9ab3526ea7f/JOCR-13-49-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/280009d4bb03/JOCR-13-49-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/b193cb8683f1/JOCR-13-49-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/c746797a303a/JOCR-13-49-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/f9ab3526ea7f/JOCR-13-49-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/280009d4bb03/JOCR-13-49-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/b193cb8683f1/JOCR-13-49-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/c746797a303a/JOCR-13-49-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ac3a/10182584/f9ab3526ea7f/JOCR-13-49-g004.jpg

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本文引用的文献

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Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot).手足裂畸形(裂手/裂足)发病机制与治疗的见解
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A novel locus for split-hand/foot malformation associated with tibial hemimelia (SHFLD syndrome) maps to chromosome region 17p13.1-17p13.3.一种与胫骨半侧发育不全相关的裂手/裂足畸形(SHFLD综合征)的新基因座定位于染色体区域17p13.1 - 17p13.3。
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A 117-kb microdeletion removing HOXD9-HOXD13 and EVX2 causes synpolydactyly.一个117千碱基的微缺失,缺失HOXD9 - HOXD13和EVX2基因,会导致并指多指畸形。
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Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.裂手/裂足畸形由位于3q27的p63基因突变引起。
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