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常见表现几率:双卵双胞胎之一出现单侧胫骨半肢畸形。

Usual Presentation Has Odds: Unilateral Tibial Hemimelia in One of Dizygotic Twins.

作者信息

Al-Chalabi Muath Mamdouh Mahmod, Wan Sulaiman Wan Azman

机构信息

Reconstructive Sciences Unit, Universiti Sains Malaysia School of Medical Sciences, Kubang Kerian, MYS.

Plastic and Reconstructive Surgery, Universiti Sains Malaysia School of Medical Sciences, Kubang Kerian, MYS.

出版信息

Cureus. 2021 Jan 21;13(1):e12834. doi: 10.7759/cureus.12834.

Abstract

Tibial hemimelia is a relatively rare congenital tibial longitudinal deficiency (approximately 1 per 1 million live births), unilateral or bilateral, with a relatively intact fibula. Hemimelia results from a disruption of the lower limb developmental field during embryogenesis due to slow or even abort of chondrification process, which results in leg length discrepancy. Affected leg commonly appears short and deformed with knee, ankle, and foot involvement. It may present with a variety of associated anomalies. Surgical treatment varies according to the type and degree of deformity, and reconstructive interventions are still limited. Reported cases of tibial hemimelia are very infrequent, especially tibial hemimelia in twins. Usually, the cases were in single embryo or less frequently in one of the monozygotic twins, but no reported cases regarding tibial hemimelia in one of the dizygotic twins as this article reports.

摘要

胫骨半肢畸形是一种相对罕见的先天性胫骨纵向缺损(每100万活产儿中约有1例),可为单侧或双侧,腓骨相对完整。半肢畸形是由于胚胎发育过程中下肢发育场的破坏,软骨化过程缓慢甚至中止,导致腿长差异。患侧腿通常显得短小且畸形,累及膝关节、踝关节和足部。它可能伴有多种相关异常。手术治疗因畸形的类型和程度而异,重建干预仍然有限。报道的胫骨半肢畸形病例非常罕见,尤其是双胞胎中的胫骨半肢畸形。通常,病例发生在单胎胚胎中,或较少见于单卵双胞胎之一,但如本文所报道,尚无关于双卵双胞胎之一患胫骨半肢畸形的报道病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0a03/7899282/88ab8f07891c/cureus-0013-00000012834-i01.jpg

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