Article (Scientific journals)
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.
Mbuyi-Musanzayi, Sebastien; Lumaka Zola, Aimé; Kasole, Toni Lubala et al.
2017In Journal of Pediatric Genetics, 6 (3), p. 186-190
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Keywords :
Wolf-Hirschhorn syndrome; cleft palate; intellectual disability; sacral dimples; severe growth delay
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Mbuyi-Musanzayi, Sebastien
Lumaka Zola, Aimé  ;  Université de Liège - ULiège > Human Genetics
Kasole, Toni Lubala
Ilunga, Erick Kasamba
Asani, Bienvenu Yogolelo
Tshilobo, Prosper Lukusa
Muenze, Prosper Kalenga
Reychler, Herve
Katombe, Francois Tshilombo
Devriendt, Koenraad
Language :
English
Title :
Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa.
Publication date :
2017
Journal title :
Journal of Pediatric Genetics
ISSN :
2146-4596
eISSN :
2146-460X
Publisher :
Thieme Medical Publishers, Stuttgart, Germany
Volume :
6
Issue :
3
Pages :
186-190
Peer reviewed :
Peer Reviewed verified by ORBi
Available on ORBi :
since 18 January 2019

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