JOURNAL OF THE CZECH PEDIATRIC SOCIETY AND THE SLOVAK PEDIATRIC SOCIETY

Čes-slov Pediat 2022, 77(Suppl.3):S11-S17 | DOI: 10.55095/CSPediatrie2022/053

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

Kateřina Adamovičová, Lukáš Plachý, Jan Lebl, Stanislava Koloušková, Štěpánka Průhová
Pediatrická klinika, 2. lékařská fakulta Univerzity Karlovy a Fakultní nemocnice v Motole

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 syndro mes 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

Published: November 4, 2022  Show citation

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Adamovičová K, Plachý L, Lebl J, Koloušková S, Průhová Š. Current perspectives on the aetiology of tall stature in children and adolescents (1): Syndromes associated with tall stature. Ces-slov Pediat. 2022;77(Suppl.3):S11-17. doi: 10.55095/CSPediatrie2022/053.
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