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.
Keywords: Fluorescent in situ hybridization (FISH); Phenotype; Severe delay speech; Wolf-Hirschhorn syndrome (WHS).
© 2023 D.E. Popescu et al., published by Sciendo.