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

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Rossignoli Sara; Cavarzere Paolo; Mattei Roberto; Palma Laura; Gaudino Rossella; Antoniazzi Franco

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Journal Paper

Paper Information

Journal: Iranian Journal of Pediatrics Year:2022 | Volume:32 | Issue:AB0034 Page(s): 0-0

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Title

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

Author(s)

Keywords

Tall Stature

Dysmorphic Feature

Weaver Syndrome

NGS Approach

Abstract

Introduction: Tall Stature is defined as length or height more than two standard deviations above the mean for age of the reference
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 generalized
overgrowth, associated with extremely advanced bone age, Dysmorphic Features such as a broad foreheadandlarge extremities,
and a slight neurodevelopmental delay. Laboratory tests were normal, and the main hormonal disorders were ruled out. The diagnosis
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.

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APA: Copy

Rossignoli, Sara, Cavarzere, Paolo, Mattei, Roberto, Palma, Laura, & Gaudino, Rossella. (2022). Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome. IRANIAN JOURNAL OF PEDIATRICS, 32(2), 0-0. SID. https://sid.ir/paper/1036057/en

Vancouver: Copy

Rossignoli Sara, Cavarzere Paolo, Mattei Roberto, Palma Laura, Gaudino Rossella. Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome. IRANIAN JOURNAL OF PEDIATRICS[Internet]. 2022;32(2):0-0. Available from: https://sid.ir/paper/1036057/en

IEEE: Copy

Sara Rossignoli, Paolo Cavarzere, Roberto Mattei, Laura Palma, and Rossella Gaudino, “Phenotypic Overlap in Children with Tall Stature: A Case of Weaver Syndrome,” IRANIAN JOURNAL OF PEDIATRICS, vol. 32, no. 2, pp. 0–0, 2022, [Online]. Available: https://sid.ir/paper/1036057/en

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