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巴尔索卡斯-帕帕斯综合征:一例报告及文献综述

Bartsocas-Papas Syndrome: A Case Report and Review of the Literature.

作者信息

Erturan Gurhan, Holton James, Wall Steven, Giele Henk

机构信息

From the *Trauma Unit and †Department of Plastic and Reconstructive Surgery, John Radcliffe Hospital, Headington, Oxford, United Kingdom.

出版信息

Ann Plast Surg. 2016 Apr;76(4):459-62. doi: 10.1097/SAP.0000000000000348.

Abstract

Bartsocas-Papas syndrome (BPS) is an autosomal recessively inherited form of the popliteal pterygium syndrome characterized by severe growth retardation, midface hypoplasia, popliteal pterygia, and syndactyly. Almost all affected babies die in utero or infancy. We report the difficulties of reconstruction and ongoing plastic surgical management in an 8-year-old child with BPS. With increasingly sophisticated resuscitation and supportive techniques, it is possible that more patients with BPS will survive beyond the neonatal period. This raises new challenges with reconstruction highlighted by this case with a difficult balance between trying to overcome some of the profound effects of the syndrome versus diminishing quality of life for the child by repeated and often unsuccessful surgical procedures.

摘要

巴尔索卡斯-帕帕斯综合征(BPS)是常染色体隐性遗传的腘窝翼状胬肉综合征,其特征为严重生长发育迟缓、面中部发育不全、腘窝翼状胬肉和并指(趾)畸形。几乎所有患病婴儿都在子宫内或婴儿期死亡。我们报告了一名患有BPS的8岁儿童重建手术的困难及正在进行的整形手术治疗情况。随着复苏和支持技术日益成熟,更多BPS患者有可能存活至新生儿期以后。这带来了重建方面的新挑战,本病例就突出了这一点,即在试图克服该综合征的一些深远影响与因反复且往往不成功的手术而降低患儿生活质量之间难以平衡。

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