一名患有贝克威思-维德曼综合征表型的刚果女性的脑脊膜膨出。

Meningocele in a congolese female with beckwith-wiedemann phenotype.

作者信息

Mbuyi-Musanzayi Sébastien, Lubala Kasole Toni, Lumaka Aimé, Kayembe Kitenge Tony, Kabamba Ngombe Leon, Kalenga Muenze Prosper, Lukusa Tshilobo Prosper, Tshilombo Katombe François, Banza Lubaba Nkulu Célestin, Devriendt Koenraad

机构信息

Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.

Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo ; Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo.

出版信息

Case Rep Genet. 2014;2014:989425. doi: 10.1155/2014/989425. Epub 2014 Dec 28.

DOI:10.1155/2014/989425

PMID:25610673

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4290800/

Abstract

Beckwith-Wiedemann syndrome (BWS) is a rare congenital syndrome characterized by an overgrowth, macroglossia, exomphalos, and predisposition to embryonal tumors. Central nervous abnormalities associated with BWS are rare. We describe a one-day-old Congolese female who presented meningocele associated with BWS phenotype.

摘要

贝克威思-维德曼综合征（BWS）是一种罕见的先天性综合征，其特征为过度生长、巨舌、脐膨出以及易患胚胎性肿瘤。与BWS相关的中枢神经异常较为罕见。我们报告了一名1日龄的刚果女性，她患有与BWS表型相关的脑脊膜膨出。