{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,18]],"date-time":"2026-01-18T01:55:27Z","timestamp":1768701327128,"version":"3.49.0"},"reference-count":41,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:sec><jats:title>Objective<\/jats:title><jats:p>To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.<\/jats:p><\/jats:sec><jats:sec><jats:title>Setting<\/jats:title><jats:p>Rare Endocrine\/Growth Diseases Center in Paris, France.<\/jats:p><\/jats:sec><jats:sec><jats:title>Design<\/jats:title><jats:p>A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.<\/jats:p><\/jats:sec><jats:sec><jats:title>Method<\/jats:title><jats:p>We used a standardized workup to classify patients into well-established diagnostic categories. Of 713 patients with ISS (<jats:italic>n<\/jats:italic>=417) or SGA status (<jats:italic>n<\/jats:italic>=296), 50.9% underwent a skeletal survey. We chose patients labeled normal or with a prepubertal slowdown of growth as a comparison group.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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 &lt;\u22122 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>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 &lt;\u22122 SDS. 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