Patient with CHARGE syndrome

Pan Afr Med J. 2018 Sep 24:31:51. doi: 10.11604/pamj.2018.31.51.7029. eCollection 2018.
[Article in French]

Abstract

A two-years-old boy presenting multiple anomaly syndrome (congenital heart disease, Tetralogy of Fallot, bilateral ear anomalies, and micropenis) was consulted in the Pneumo-allergology unit of Rabat children hospital in Morocco. It was ruled out the possibility of multiple deformities caused by genomic imbalances. The patient was then clinically considered to have CHARGE syndrome, an autosomal dominant multi-system disorder involving defects in multiple organs.

Publication types

  • Case Reports

MeSH terms

  • CHARGE Syndrome / diagnosis*
  • CHARGE Syndrome / physiopathology
  • Child, Preschool
  • Ear / abnormalities
  • Genital Diseases, Male / etiology
  • Heart Defects, Congenital / etiology*
  • Humans
  • Male
  • Penis / abnormalities
  • Tetralogy of Fallot / etiology*

Supplementary concepts

  • Penis agenesis