ESPE Abstracts

Background: There is a shortage of clinically useful growth charts for following growth development in conditions with extreme short stature. At the same time, it is not possible to construct syndrome-specific growth charts for many of these conditions due to low prevalence and perhaps also often a great inter-individual variability of the growth defect within a certain syndrome.

Objective and hypotheses: The aim of this project was to evaluate growth patterns of children with severe growth retardation using our newly constructed achondroplasia reference as a short stature reference.

Method: Height and weight measurements from about 200 children and adolescents with defined skeletal dysplasia (e.g. spondyloepiphyseal dysplasia congenita (SEDC) and Kniest syndrome, acrodysostosis, spondylometaphyseal dysplasia, acromesomelic dysplasia) aged 0–20 years were expressed in S.D. score both relative to the WHO and the achondroplasia reference (Neumeyer et al., unpublished). Syndrome-specific growth patterns were evaluated.

Results: Height in several syndromes followed within the normal range (±2 S.D.) of the specific short stature standard. Height development in acromesomelic dysplasia Maroteaux for instance was identical to the achondroplasia mean; weight developed at −1 S.D. of the short stature reference. For other extreme conditions such as in Kniest syndrome, height pattern seemed better captured in the short stature reference compared to the WHO standard.

Conclusion: The presented examples show clearly the value of expressing growth pattern in severe growth retardation in S.D.s-format. The results of this study could facilitate the adjustment of surveillance and follow-up programs and could be used in clinical centers following individuals with severe growth restriction irrespective of diagnosis.

Funding: This work was supported by Stiftelsen Promobilia.