一例通过小头畸形产后诊断确诊的诺曼-罗伯茨综合征病例。

A case of Norman-Roberts syndrome identified from postnatal diagnosis of microlissencephaly.

作者信息

Tosello Barthélémy, Brévaut-Malaty Véronique, Chaumoître Kathia, Gire Catherine

机构信息

Department of Neonatology, Assistance Publique-Hôpitaux de Marseille, North University Hospital , Marseille , France.

出版信息

Fetal Pediatr Pathol. 2015 Jun;34(3):197-201. doi: 10.3109/15513815.2015.1031414. Epub 2015 Apr 30.

DOI:10.3109/15513815.2015.1031414

PMID:25927602

Abstract

Lissencephaly is a rare brain malformation. What differentiates microlissencephaly from classical lissencephaly and other variants is the presence of severe microcephaly. Very few postnatal cases of Norman-Roberts syndrome are described in the literature. We report a case of microlissencephaly with a polymalformative syndrome that prompted postnatal diagnosis of Norman-Roberts syndrome.

摘要

无脑回畸形是一种罕见的脑畸形。微无脑回畸形与经典无脑回畸形及其他变异型的区别在于存在严重小头畸形。文献中描述的诺曼 - 罗伯茨综合征的产后病例非常少。我们报告一例伴有多畸形综合征的微无脑回畸形病例，该病例促使对诺曼 - 罗伯茨综合征进行产后诊断。