Flechtner I, Lambot-Juhan K, Teissier R, Colmenares A, Baujat G, Beltrand J, Ajaltouni Z, Pauwels C, Pinto G, Samara-Boustani D, Simon A, Thalassinos C, Le Merrer M, Cormier-Daire V, Polak M
Pediatric Endocrinology, Gynecology and Diabetology, AP-HP, Imagine Institute Affiliate, Centre de Référence des Maladies Endocriniennes Rares.
Eur J Endocrinol. 2014 Apr 10;170(5):677-84. doi: 10.1530/EJE-13-0864. Print 2014 May.
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.
评估特发性身材矮小（ISS）或小于胎龄儿（SGA）患者中骨骼发育异常（SDs）的患病率。
法国巴黎罕见内分泌/生长疾病中心。
对2004年至2009年连续纳入的ISS和SGA患者进行的前瞻性研究。
我们采用标准化检查方法将患者分类到已明确的诊断类别中。在713例ISS患者（n = 417）或SGA患者（n = 296）中，50.9%接受了骨骼检查。我们选择标记为正常或青春期前生长减缓的患者作为对照组。
诊断结果为ISS（16.9%）、SGA（13.5%）、生长正常（24.5%）、生长速率暂时减慢（17.3%）、内分泌功能障碍（12%）、遗传综合征（8.9%）、慢性疾病（5.1%）以及已知的SD（1.8%）。在20.9%的SGA患者和21.8%的ISS患者中发现了SD，而在我们的对照组中仅为13.2%。ISS组的SD患病率显著高于对照组，尤其是父母身高至少有一方＜ -2 SDS的患者（50%）。骨软骨发育不全和软骨发育不全是最常确诊的SD，分别有61.5%和30%发现了遗传异常。三组中均同样发现了轻微的SD，需要长期生长随访以评估其对最终身高的影响。
SD可能解释了超过20%归因于ISS或SGA的生长迟缓病例，当父母身高＜ -2 SDS时，这一比例更高。对于ISS或SGA背景下生长迟缓的患者，应进行骨骼检查。
