hrp0098rfc5.5 | Growth and Syndromes | ESPE2024

Searching for associated dysmorphic and cardiac abnormalities in youth tall basketball players

Gregorova Katerina , Plachy Lukas , Dusatkova Petra , Maratova Klara , Kodytkova Aneta , Iurchenko Olena , Chaloupecky jr. Vaclav , Pruhova Stepanka

Introduction: Tall stature (TS) is defined as height taller > +2 SD. Subjects with TS are not usually genetically nor clinically tested unless having a suspicion for a specific disease. Young basketball players used to be healthy children who are exposed to enormous physical stress in trainings and matches.Aims: To evaluate the syndromic features via anthropometric assessment, to reveal possible hidden cardiologic ano...

hrp0097fc4.2 | Growth and syndromes (to include Turner syndrome) | ESPE2023

Genetic and phenotypic features of children with familial tall stature

Gregorova Katerina , Plachy Lukas , Dusatkova Petra , Maratova Klara , Lebl Jan , Kolouskova Stanislava , Snajderova Marta , Sumnik Zdenek , Obermannova Barbora , Neuman Vit , Pruhova Stepanka

Introduction: Familial tall stature (FTS) is defined as height taller than +2 SD in a subject growing within his/her midparental height (MPH) with no apparent dysmorphic features. FTS is routinely not an indication for genetic investigation. However, some subtle dysmorphic features of various genetic disorders might be missed justifying the need for further investigation.Aims: To elucidate the genetic cause of FTS and to...