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超声诊断复发性若恩综合征:一例报告

Ultrasound diagnosis of recurring Jeune's syndrome: a case report.

作者信息

Kontomanolis E N, Markopoulou E, Pinidis P, Georgiadis A, Kokkoris S, Limperis V

机构信息

Department of Obstetrics & Gynecology, Democritus, University, Alexandroupolis, Greece.

出版信息

Clin Exp Obstet Gynecol. 2013;40(1):162-4.

Abstract

Jeune's Syndrome or asphyxiating thoracic dystrophy (ATD) is a rare autosomal recessive skeletal dysplasia syndrome characterized by a small and narrow chest, short extremities, and often polydactyly associated with multiple organ manifestations. The severity of complications ranges from mild to lethal. This is a report of two cases of ATD diagnosed in successive pregnancies of a nonconsanguineous couple. The contribution of sonography in prenatal diagnosis of the syndrome is highlighted.

摘要

热内综合征或窒息性胸廓发育不良(ATD)是一种罕见的常染色体隐性骨骼发育异常综合征,其特征为胸廓狭小、四肢短小,常伴有多指畸形及多器官表现。并发症的严重程度从轻度到致命不等。本文报道了一对非近亲夫妇连续两次妊娠中诊断出的两例ATD病例。重点强调了超声检查在该综合征产前诊断中的作用。

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