Clinical charts for surveillance of growth and body proportion development in achondroplasia and examples of their use

Clinical surveillance of infants and children with achondroplasia necessitates syndrome‐specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We present growth and body proportion charts for ages 0–20...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics. Part A 2021-02, Vol.185 (2), p.401-412
Hauptverfasser: Neumeyer, Luitgard, Merker, Andrea, Hagenäs, Lars
Format: Artikel
Sprache:eng
Schlagworte:
Online-Zugang:Volltext
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
Beschreibung
Zusammenfassung:Clinical surveillance of infants and children with achondroplasia necessitates syndrome‐specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below normal population ranges. We present growth and body proportion charts for ages 0–20 years, constructed from semi‐longitudinal standardized measurements of about 450 children, along with some examples of achondroplasia typical and atypical growth pattern. We combine head circumference, height and weight for 0–4 years into one (infancy) page and height and weight for 4–20 years in another (childhood–adolescence) using nonlinear axes to account for the rapidly decreasing growth velocity. Similarly, weight and BMI are based on nonlinear axes to balance wide SD‐channels at higher and narrow SD‐channels at lower levels of weight/BMI. Charts for following sitting height, sitting height/height ratio, arm span, leg and foot length are also presented. Clinical examples illustrating the applicability of the charts include cases of extreme prematurity, extreme head circumference development before and after shunting, achondroplasia complicated by chromosomal or additional genetic abnormality and by growth hormone deficiency as well as of evaluating growth promoting therapy.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.61974