title: Spine malformation complex in 3 diverse syndromic entities: Case reports.
abstract: BACKGROUND
  Clinical and radiographic phenotypic characterizations were the base line tool of diagnosis in 3 syndromic disorders in which congenital cervico-thoracic kyphosis was the major deformity.
  
  
  METHODS
  Directing maximal care toward the radiographic analysis is not only the axial malformation but also toward the appendicular abnormalities was our main concern. We fully documented the diversity of the spine phenotypic malformation complex via the clinical and radiographic phenotypes.
  
  
  METHODS
  We established the diagnosis via phenotypic/genotypic confirmation in 3 diverse syndromic entities namely acampomelic campomelic dysplasia, Larsen syndrome and Morquio syndrome type A (mucopolysaccharidosis type IV A).
  
  
  METHODS
  Surgical interventions have been carried out in the Larsen syndrome and Morquio syndrome type A, resepectively.
  
  
  RESULTS
  The earliest the diagnosis is, the better the results are. The necessity to diagnose children in their first year of life has many folds, firstly the management would be in favor of the child's growth and development and secondly, the prognosis could be clearer to the family and the medical staff as well. Our current paper is to sensitize paediatricians, physicians and orthopedic surgeons regarding the necessity to detect the aetiological understanding in every child who manifests a constellation of malformation complex.
  
  
  CONCLUSIONS
  Scoliosis and kyphosis/kyphoscoliosis are not a diagnosis in themselves. Such deformities are mostly a symptom complex correlated to dozens of types of syndromic associations. The rate curve progression and the final severity of congenital spine tilting are related to 3 factors: (a) the type of vertebral malformation present, (b) the patient's phenotype, and
authors.affiliation: Ludwig Boltzmann Institute of Osteology, the Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital Orthopaedic Hospital of Speising, Paediatric Department Department of Pediatrics, Kaiser-Franz-Josef Spital, Vienna, Austria Axial Skeleton and Neurosurgery Department, Restorative Traumatology and Orthopaedics, Ilizarov Center, Kurgan, Russia Pediatric Orthopedic Institute n.a. H. Turner, Department of Foot and Ankle Surgery, Neuroorthopaedics and Systemic Disorders, Saint-Petersburg, Russia Institute of Medical Chemistry, Medical University of Vienna, Austria.
authors.forename: Ali Al
authors.initials: AA
authors.lastname: Kaissi
authors.forename: Andreas
authors.initials: A
authors.lastname: van Egmond-Fröhlich
authors.forename: Sergey
authors.initials: S
authors.lastname: Ryabykh
authors.forename: Polina
authors.initials: P
authors.lastname: Ochirov
authors.forename: Vladimir
authors.initials: V
authors.lastname: Kenis
authors.forename: Jochen G
authors.initials: JG
authors.lastname: Hofstaetter
authors.forename: Franz
authors.initials: F
authors.lastname: Grill
authors.forename: Rudolf
authors.initials: R
authors.lastname: Ganger
authors.forename: Susanne Gerit
authors.initials: SG
authors.lastname: Kircher
mesh_terms: D055036:Campomelic Dysplasia / Q000000981:diagnostic imaging* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D008297:Male; D009085:Mucopolysaccharidosis IV / Q000000981:diagnostic imaging* / Q000601:surgery; D009139:Musculoskeletal Abnormalities / Q000175:diagnosis / Q000601:surgery; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000601:surgery; D035583:Rare Diseases; D012494:Sampling Studies; D013131:Spine / Q000002:abnormalities*; D014057:Tomography, X-Ray Computed / Q000379:methods*