title: Body Composition in Children and Adolescents with Osteogenesis Imperfecta.
abstract: OBJECTIVE
  To use peripheral quantitative computed tomography to determine the cross-sectional area (CSA) of subcutaneous fat and muscle (fat CSA, muscle CSA) in transverse forearm scans in patients with osteogenesis imperfecta (OI).
  
  
  METHODS
  Fat and muscle CSA were quantified in 266 individuals (142 female) aged 5-20 years who had a diagnosis of OI type I, III, or IV and who had mutations in COL1A1 or COL1A2. Results were compared with those of 255 healthy controls.
  
  
  RESULTS
  In a subgroup of 39 patients with OI type I, % fat CSA correlated closely with total body percentage fat mass as determined by dual-energy x-ray absorptiometry (R(2) = 0.69; P < .001). In the entire study cohort, muscle CSA adjusted for age, sex, and forearm length was lower in OI type I and III than in controls (P < .05 each), but fat CSA was similar between OI types and controls. No relationship between the type of disease-causing mutation in the COL1A1 or COL1A2 genes and fat CSA or muscle CSA was found.
  
  
  CONCLUSIONS
  Children and adolescents with OI have low muscle size but a normal amount of subcutaneous fat at the forearm.
authors.affiliation: Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
authors.forename: Telma
authors.initials: T
authors.lastname: Palomo
authors.affiliation: Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
authors.forename: Francis H
authors.initials: FH
authors.lastname: Glorieux
authors.affiliation: Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada.
authors.forename: Eckhard
authors.initials: E
authors.lastname: Schoenau
authors.affiliation: Shriners Hospital for Children and McGill University, Montreal, Quebec, Canada. Electronic address: frauch@shriners.mcgill.ca.
authors.forename: Frank
authors.initials: F
authors.lastname: Rauch
mesh_terms: D000293:Adolescent; D001823:Body Composition; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D008297:Male; D010013:Osteogenesis Imperfecta / Q000378:metabolism*; D012189:Retrospective Studies; D055815:Young Adult