hrp0095rfc7.3 | Growth and Syndromes | ESPE2022

Genetic analysis of children with clinically non-syndromic tall stature

Adamovicova Katerina , Plachy Lukas , Dusatkova Petra , Lebl Jan , Maratova Klara , Sumnik Zdenek , Neuman Vit , Petruzelkova Lenka , Snajderova Marta , Obermannova Barbora , Kolouskova Stanislava , Malikova Jana , Pruhova Stepanka

Introduction: The genetic investigation of tall stature (TS) is routinely indicated only in children with clinical suspicion of a specific syndrome associated with TS. After ruling out an endocrine disorder, the remaining tall children mostly receive a clinical diagnosis of “idiopathic” (ITS) or “familial” tall stature (FTS). The aetiology of their TS remains unknown.Aims: To elucidate genetic cau...

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...