title: Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.
abstract: OBJECTIVE
  To assess the prevalence of skeletal dysplasias (SDs) in patients with idiopathic short stature (ISS) or small for gestational age (SGA) status.
  
  
  METHODS
  Rare Endocrine/Growth Diseases Center in Paris, France.
  
  
  METHODS
  A prospective study on consecutive patients with ISS and SGA enrolled from 2004 to 2009.
  
  
  METHODS
  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.
  
  
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Pediatric Endocrinology, Gynecology and Diabetology, AP-HP, Imagine Institute Affiliate, Centre de Référence des Maladies Endocriniennes Rares.
authors.forename: I
authors.initials: I
authors.lastname: Flechtner
authors.forename: K
authors.initials: K
authors.lastname: Lambot-Juhan
authors.forename: R
authors.initials: R
authors.lastname: Teissier
authors.forename: A
authors.initials: A
authors.lastname: Colmenares
authors.forename: G
authors.initials: G
authors.lastname: Baujat
authors.forename: J
authors.initials: J
authors.lastname: Beltrand
authors.forename: Z
authors.initials: Z
authors.lastname: Ajaltouni
authors.forename: C
authors.initials: C
authors.lastname: Pauwels
authors.forename: G
authors.initials: G
authors.lastname: Pinto
authors.forename: D
authors.initials: D
authors.lastname: Samara-Boustani
authors.forename: A
authors.initials: A
authors.lastname: Simon
authors.forename: C
authors.initials: C
authors.lastname: Thalassinos
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
authors.forename: V
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: M
authors.initials: M
authors.lastname: Polak
mesh_terms: D000293:Adolescent; D001848:Bone Diseases, Developmental / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D001842:Bone and Bones / Q000002:abnormalities / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004392:Dwarfism / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D005192:Family Health; D005260:Female; D005317:Fetal Growth Retardation / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology*; D005602:France / Q000453:epidemiology; D014644:Genetic Variation; D006130:Growth Disorders / Q000453:epidemiology / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D006776:Hospitals, Pediatric; D006784:Hospitals, Teaching; D006801:Humans; D007223:Infant; D007236:Infant, Small for Gestational Age; D017880:Limb Deformities, Congenital / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D008141:Lordosis / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D008297:Male; D010009:Osteochondrodysplasias / Q000453:epidemiology / Q000235:genetics / Q000503:physiopathology; D015995:Prevalence; D011446:Prospective Studies; D012017:Referral and Consultation