Current perspectives on the aetiology of tall stature in children and adolescents (1): Syndromes associated with tall stature
Abstract
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, Ma-lan 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 hepa-toblastoma) 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.