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Flechtner I.,Imagine Institute Affiliate | Lambot-Juhan K.,University of Paris Descartes | Teissier R.,Brest University Hospital Center | Colmenares A.,Imagine Institute Affiliate | And 11 more authors.
European Journal of Endocrinology | Year: 2014

Objective: To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status. Setting: Rare Endocrine/Growth Diseases Center in Paris, France. Design: A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009. Method:We used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (nZ417) or SGA status (nZ296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group. Results: 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. Conclusion: 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!K2 SDS. A skeletal survey should be obtained in patients with delayed growth in a context of ISS or SGA. © 2014 European Society of Endocrinology Printed in Great Britain. Source

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