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I Flechtner, K Lambot-Juhan, R Teissier, A Colmenares, G Baujat, J Beltrand, Z Ajaltouni, C Pauwels, G Pinto, D Samara-Boustani, A Simon, C Thalassinos, M Le Merrer, V Cormier-Daire, M Polak, Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients, European Journal of Endocrinology, Volume 170, Issue 5, May 2014, Pages 677–684, https://doi.org/10.1530/EJE-13-0864
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Abstract
To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.
Rare Endocrine/Growth Diseases Center in Paris, France.
A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.
We used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (n=417) or SGA status (n=296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group.
Diagnoses were ISS (16.9%), SGA (13.5%), normal growth (24.5%), transient growth rate slowing (17.3%), endocrine dysfunction (12%), genetic syndrome (8.9%), chronic disease (5.1%), and known SD (1.8%). SD was found in 20.9% of SGA and 21.8% ISS patients and in only 13.2% in our comparison group. SD prevalence was significantly higher in the ISS group than in the comparison group, especially (50%) for patients having at least one parent whose height was <−2 SDS. Dyschondrosteosis and hypochondroplasia were the most frequently identified SD, and genetic anomaly was found in 61.5 and 30% respectively. Subtle SD was found equally in the three groups and require long-term growth follow-up to evaluate the impact on final height.
SD may explain more than 20% of cases of growth retardation ascribed to ISS or SGA, and this proportion is higher when parental height is <−2 SDS. A skeletal survey should be obtained in patients with delayed growth in a context of ISS or SGA.