Ellis-van Creveld综合征一例报告:临床、胚胎学、麻醉和外科意义。

IF 0.7 Q4 SURGERY Indian Journal of Plastic Surgery Pub Date : 2024-11-08 eCollection Date: 2024-12-01 DOI:10.1055/s-0044-1793845
Monusha Mohan, S Raja Sabapathy
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引用次数: 0

摘要

轴后多指畸形(PAP)是相当常见的形式,在初级软组织肿块。治疗包括结扎或手术切除。很少有文献讨论涉及复杂的变异,其中多余的手指是完全发育的。Ellis-van Creveld综合征(EVC)或软骨外胚层发育不良是一种罕见的以PAP为特征的疾病。当软骨发育不良包括PAP、侏儒症和膝外翻时,外胚层发育不良包括指甲和牙齿。我们描述了两个EVC病例。当一个有心脏畸形时,另一个有牙齿畸形。其中一人接受了膝外翻矫正并切除了多余的手指。由于手部掌骨与第五掌骨融合,手部手术被证明是复杂的。小儿结局数据收集工具(PODCI)在手部和膝关节手术后1.5年和2.5年的评分都很好。多学科方法对于实现全面护理至关重要。需要进一步的胚胎学研究来阐明本报告中描述的临床表现。
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A Case Report on Ellis-van Creveld Syndrome: Clinical, Embryological, Anesthetic, and Surgical Implications.

Postaxial polydactyly (PAP) in the form of rudimentary soft tissue masses is quite common. Management involves ligation or surgical excision. Rarely do literature discussions cover complex variants in which the extra finger is fully developed. Ellis-van Creveld syndrome (EVC) or chondroectodermal dysplasia is a rare disorder characterized by PAP. When chondral dysplasia encompasses PAP, dwarfism, and genu valgum, ectodermal dysplasia involves nails and teeth. We describe two EVC cases. When one had cardiac malformations, the other had dental anomalies. One of them underwent genu valgum correction and removal of the additional finger. The hand surgery proved complex due to fusion of its metacarpal with the fifth metacarpal. Pediatric Outcomes Data Collection Instrument (PODCI) scores at 1.5 and 2.5 years after hand and knee surgeries were excellent. A multidisciplinary approach is essential to achieve comprehensive care. Additional embryological research is necessary to elucidate the clinical manifestations described in this report.

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来源期刊
CiteScore
0.80
自引率
12.50%
发文量
64
审稿时长
27 weeks
期刊介绍: Indian Journal of Plastic Surgery (ISSN : 0970-0358) is biannual publication of the Association of Plastic Surgeons of India. Bibliographic listings: The journal is indexed with Bioline International, Caspur, DOAJ, EBSCO Publishing’s Electronic Databases, Expanded Academic ASAP, Genamics JournalSeek, Google Scholar, Health & Wellness Research Center, Health Reference Center Academic, Hinari, Index Copernicus, IndMed, OpenJGate, PubMed, Pubmed Central, Scimago Journal Ranking, SCOLOAR, SCOPUS, SIIC databases, SNEMB, Ulrich’s International Periodical Directory
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