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Current perspectives on the aetiology of tall stature in children and adolescents (1): Syndromes associated with tall stature


Authors: Adamovičová Kateřina;  Plachý Lukáš;  Lebl Jan;  Koloušková Stanislava;  Průhová Štěpánka
Authors‘ workplace: Pediatrická klinika, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice v Motole
Published in: Čes-slov Pediat 2022; 77 (Supplementum 3): 11-17.
Category: Comprehensive Report
doi: https://doi.org/10.55095/CSPediatrie2022/053

Overview

Tall stature is defined as body height more than +2 standard deviations (SD) for age and sex. The aetiology of tall stature can be genetic or non-genetic. Syndromic tall stature belongs to the genetic causes - e.g. Marfan syndrome, Klinefelter syndrome, Beckwith- Wiedemann syndrome, Sotos syndrome, Simpson-Golabi-Behmel syndrome, Malan syndrome, Weaver syndrome, Proteus syndrome, as well as syndromes caused by gonosomic trisomy (47,XXX, 47,XYY) or fragile X syndrome and homocystinuria etc. The diagnostics of tall stature is based on clinical evaluation of the typical signs and molecular genetic examination.

Syndromologic tall stature can be associated with higher oncologic (eg. higher risk of nephroblastoma or hepatoblastoma) or cardiovascular risks. The particular risks are based on the specific genetic cause of tall stature. Tall patients should be examined in detail so that the concrete risks can be revealed in time.

Keywords:

tall stature – aetiology of tall stature – syndromes associated with tall stature


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Labels
Neonatology Paediatrics General practitioner for children and adolescents
Topics Journals
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