Meningocele in a Congolese Female with Beckwith-Wiedemann Phenotype

Author:

Mbuyi-Musanzayi Sébastien12,Lubala Kasole Toni23,Lumaka Aimé45,Kayembe Kitenge Tony6,Kabamba Ngombe Leon6,Kalenga Muenze Prosper27,Lukusa Tshilobo Prosper45,Tshilombo Katombe François1,Banza Lubaba Nkulu Célestin6,Devriendt Koenraad5

Affiliation:

1. Department of Surgery, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo

2. Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo

3. Department of Pediatrics, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo

4. Department of Pediatrics, University Hospital, University of Kinshasa, P.O. Box 123, Kin XI, Kinshasa, Democratic Republic of the Congo

5. Center for Human Genetics, University Hospital, KU Leuven, Campus Gasthuisberg, Herestraat 49, P.O. Box 602, 3000 Leuven, Belgium

6. Unit of Toxicology and Environment, School of Public Health, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo

7. Department of Gynecology, University Hospital, University of Lubumbashi, P.O. Box 1825, Lubumbashi, Democratic Republic of the Congo

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.

Publisher

Hindawi Limited

Subject

General Medicine

Cited by 1 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Beckwith-Wiedemann Syndrome;Orthopaedics for the Newborn and Young Child;2023

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