Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome

Introduction: Tall stature is defined as length or height more than two standard deviations above the mean for age of the refer- ence population. There are different causes of tall stature from a familial trait or a transient anticipation of growth with no major consequences to growth disorders, such as endocrine disorder and syndromic conditions like overgrowth syndromes. Case Presentation: In this study, we reported the case of a 7-year-old girl with tall stature from birth. The patient showed a general- ized overgrowth, associated with extremely advanced bone age, dysmorphic features such as a broad forehead and large extremities, and a slight neurodevelopmental delay. Laboratory tests were normal, and the main hormonal disorders were ruled out. The diag- nosis of overgrowth syndrome was suspected according to the clinical presentation, and the diagnosis of Weaver syndrome was confirmed by the finding of the pathogenic mutation c.2050C > T p.(Arg684Cys) in EZH2 gene through next generation sequencing (NGS). Conclusions: Our patient showed phenotypical features related to different overgrowth syndrome characteristics. We underlined the difficulties in reaching a clinical diagnosis in presence of tall stature. The role of molecular biology, particularly genetic analysis by NGS approach, should be considered in cases of tall stature with phenotypic overlap.