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一名患有埃利斯-范克里维尔德综合征的2岁女性出现轴后多指畸形的罕见病例。

A Rare Presentation of Postaxial Polydactyly in a 2-Year-Old Female with Ellis-van Creveld Syndrome.

作者信息

Anthony Taylor, Nguyen Eric T, Moyer Benjamin, Meter Joseph, Williams Riley, Williams Carl N

机构信息

Orthopedic Surgery, Valley Hospital Medical Center, Las Vegas, NV.

Touro University Nevada College of Osteopathic Medicine, Henderson, NV.

出版信息

J Hand Surg Glob Online. 2023 Sep 20;5(6):852-855. doi: 10.1016/j.jhsg.2023.08.007. eCollection 2023 Nov.

Abstract

Postaxial or ulnar polydactyly is the most common form of polydactyly that may present with the duplication of soft-tissue structures only or with additional bony involvement. Surgical excision is the only viable treatment option for postaxial polydactyly with bony involvement, and psychological or cosmetic reasons are the main rationale for treatment. Ellis-van Creveld syndrome (EVC) is a rare congenital disorder characterized by chondral and ectodermal dysplasia, particularly postaxial polydactyly. The exact prevalence of EVC is unknown, and fewer than 300 cases have been reported. We present a case of a 2-year-old Hispanic female with EVC who presented with bilateral postaxial polydactyly and complete duplication of the metacarpal and phalanges. We describe the presentation and treatment of this patient, who ultimately underwent staged resection of the duplicated digits with reconstruction of the abductor muscle.

摘要

轴后性或尺侧多指畸形是多指畸形最常见的形式,可能仅表现为软组织结构的重复,或伴有额外的骨质受累。对于伴有骨质受累的轴后性多指畸形,手术切除是唯一可行的治疗选择,心理或美容原因是治疗的主要依据。埃利斯-范克里弗德综合征(EVC)是一种罕见的先天性疾病,其特征为软骨和外胚层发育异常,尤其是轴后性多指畸形。EVC的确切患病率尚不清楚,报告的病例不到300例。我们报告一例2岁西班牙裔女性埃利斯-范克里弗德综合征患者,其表现为双侧轴后性多指畸形,掌骨和指骨完全重复。我们描述了该患者的临床表现及治疗过程,该患者最终接受了分期切除重复手指并重建外展肌的手术。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5d99/10721548/a41601c94dac/gr1.jpg

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