一名患有原发性纤毛运动障碍、内脏反位和特纳综合征的新生儿出现呼吸窘迫。

Respiratory distress in a newborn with primary ciliary dyskinesia, situs inversus and Turner syndrome.

作者信息

Oggiano N, Kantar A, Fabbrizi E, Cutrona F, Pagni R, Gentili M, Fabrizzi G C, Giorgi P L

机构信息

Department of Pediatrics, University of Ancona, Salesi Hospital.

出版信息

Minerva Pediatr. 1994 Apr;46(4):153-5.

PMID:8084322

Abstract

A report is given of a newborn girl with situs inversus and Turner syndrome that presented respiratory distress. The patient had a mosaic karyotype 45,X/46,X + mar (80%/20%). Ciliary motion analysis demonstrated a total absence of ciliary motion whereas, ultrastructural studies revealed typical features of primary ciliary dyskinesia (PCD) (absence or short outer/inner dynein arms in 90% of the cilia). We regard this rare combination (PCD, situs inversus and Turner syndrome) as a coincidental occurrence.

摘要

报告了一名患有内脏反位和特纳综合征的新生女婴，该女婴出现呼吸窘迫。患者的核型为嵌合体45,X/46,X + mar（80%/20%）。纤毛运动分析显示完全没有纤毛运动，而超微结构研究揭示了原发性纤毛运动障碍（PCD）的典型特征（90%的纤毛中缺乏或外/内动力蛋白臂短）。我们认为这种罕见的组合（PCD、内脏反位和特纳综合征）是一种巧合。