J Pediatr Genet 2017; 06(03): 186-190
DOI: 10.1055/s-0037-1599194
Case Report
Georg Thieme Verlag KG Stuttgart · New York

Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

Sébastien Mbuyi-Musanzayi
1   Department of Surgery, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
2   Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo
,
Aimé Lumaka
3   Center for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium
4   Department of Pediatrics, University Hospital, University of Kinshasa, Kin XI, Kinshasa, The Democratic Republic of the Congo
5   Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kin XI, Kinshasa, The Democratic Republic of the Congo
6   Institut National de Recherche Biomedicale, Kinshasa, The Democratic Republic of the Congo
,
Toni Lubala Kasole
2   Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo
7   Department of Pediatrics, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
,
Erick Kasamba Ilunga
2   Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo
8   Department of Basic sciences, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
,
Bienvenu Yogolelo Asani
2   Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo
9   Department of Ophthalmology, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
,
Prosper Lukusa Tshilobo
3   Center for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium
4   Department of Pediatrics, University Hospital, University of Kinshasa, Kin XI, Kinshasa, The Democratic Republic of the Congo
5   Center for Human Genetics, Faculty of Medicine, University of Kinshasa, Kin XI, Kinshasa, The Democratic Republic of the Congo
6   Institut National de Recherche Biomedicale, Kinshasa, The Democratic Republic of the Congo
,
Prosper Kalenga Muenze
2   Center for Human Genetics, Faculty of Medicine, University of Lubumbashi, Lubumbashi, DR Congo
8   Department of Basic sciences, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
10   Department of Gynecology, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
,
Hervé Reychler
11   Department of Oral and Maxillofacial surgery, University Hospital, UC Louvain, Brussels, Belgium
,
François Tshilombo Katombe
1   Department of Surgery, University Hospital, University of Lubumbashi, Lubumbashi, DR Congo
,
Koenraad Devriendt
3   Center for Human Genetics, University Hospital, Katholieke Universiteit Leuven, Leuven, Belgium
› Author Affiliations
Further Information

Publication History

04 November 2016

18 January 2017

Publication Date:
07 March 2017 (online)

Abstract

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, severe growth delay, and intellectual disability was 12 years old. Typical craniofacial features were present, though the characteristic “Greek helmet” appearance of the nose was less evident, probably reflecting a variable expression related to the genetic background. The clinical diagnosis of WHS was confirmed by array CGH, which revealed a terminal 4p16.3 deletion of 3.47 Mb, typically associated with a milder phenotype, contributing to the long survival of this child in a developing country.

 
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