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Features of the Wolf-Hirschhorn Syndrome (WHS) from Infant to Young Teenager.

D E PopescuD MarianM ZeleniucCh SamoilaV Belengeanu
Published in: Balkan journal of medical genetics : BJMG (2023)
Wolf-Hirschhorn syndrome is a rare condition caused by terminal deletions, of variable size, in the short arm of chromosome 4. The syndrome displays the combination of typical morphological facial variations, intellectual disability, language delay, and various malformations. This report describes the clinical aspect and developmental evolution of a male patient with Wolf-Hirschhorn syndrome, from infancy to adolescence. The patient was first examined and diagnosed at 11 months, with follow-up at the ages of 4 and 16.
Keyphrases
  • case report
  • intellectual disability
  • autism spectrum disorder
  • depressive symptoms
  • weight loss
  • weight gain
  • soft tissue