title: [Hip dysplasia and spinal osteochondritis (Scheuermann's disease) in a girl with type II manifesting collagenopathy].
abstract: OBJECTIVE
  This paper describes the natural course of irritable hip pain associated with spinal rigidity and pain in the thoracic region with subsequent development of mild kyphosis in a girl with a mutation in the collagen 2 alpha 1 gene (type II collagenopathy).
  
  
  METHODS
  Phenotypic and genotypic characterization was carried out in a 14-year-old girl to identify the underlying pathology of severe irritable hip pain associated with thoracic spinal rigidity and pain. Detailed clinical examination, skeletal survey and genetic testing were performed accordingly. Bernese periacetabular osteotomy was used to alleviate pain and to improve the anatomical correlation of the acetabular and femoral heads.
  
  
  RESULTS
  Short stature associated with acetabulo-femoral dysplasia, spinal osteochondritis (Scheuermann's disease) and mild thoracic kyphosis were the most prominent abnormalities. Genetic analysis showed a heterozygous mutation in the collagen type II gene (COL2A1-c.1636G>A, p. G546S). A Bernese periacetabular osteotomy was performed to improve the clinical status of the patient. There was significant improvement in the extrusion index, the acetabular index and the lateral center-edge angle.
  
  
  CONCLUSIONS
  Hip dysplasia and Scheuermann's osteochondritis have never been reported in connection with a mutation in COL2A1 (collagenopathy type II). Awareness is needed for careful phenotypic and genotypic characterization in patients with irritable hip pain and spinal stiffness.
authors.affiliation: Ludwig Boltzmann Institute of Osteology, Hanusch Hospital, Heinrich-Collin-Str. A-30, 1140, Wien, Österreich, ali.alkaissi@osteologie.at.
authors.forename: A
authors.initials: A
authors.lastname: Al Kaissi
authors.forename: F
authors.initials: F
authors.lastname: Laccone
authors.forename: C
authors.initials: C
authors.lastname: Karner
authors.forename: R
authors.initials: R
authors.lastname: Ganger
authors.forename: K
authors.initials: K
authors.lastname: Klaushofer
authors.forename: F
authors.initials: F
authors.lastname: Grill
mesh_terms: D000293:Adolescent; D018771:Arthralgia / Q000175:diagnosis / Q000209:etiology / Q000517:prevention & control*; D005260:Female; D006617:Hip Dislocation / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D006801:Humans; D010009:Osteochondrodysplasias / Q000150:complications / Q000175:diagnosis / Q000601:surgery*; D010027:Osteotomy / Q000379:methods*; D055035:Spinal Osteochondrosis / Q000175:diagnosis / Q000209:etiology / Q000601:surgery*; D016896:Treatment Outcome