Clinical features, behaviour and language in Wolf-Hirschhorn syndrome

Wolf-Hirschhorn syndrome (WHS) is associated with intellectual disability and multiple congenital anomalies. A female patient with WHS was evaluated at two different times, in childhood and adolescence. Clinical examinations of various medical specialties and assessments of language and behaviour were carried out. In childhood, she showed signs of autism spectrum disorder, as well as other phenotypic characteristics. The impact of this chromosomal anomaly has had repercussions on neurodevelopment and needs to be better understood. This case highlights the serious impairment in both language and behaviour, despite investments in lifelong intervention processes. More research is required to understand WHS’ deleterious effects on development, specifically on language and behaviour.