title: Musculo-skeletal abnormalities in patients with Marfan syndrome.
abstract: BACKGROUND
  A leptosomic body type is tall and thin with long hands. Marfanoid features may be familial in nature or pathological, as occurs in congenital contractual arachnodactyly (Beal's syndrome) and Shprintzen-Goldberg syndrome mimicking some of the changes of Marfan syndrome, although not accompanied by luxation of lens and dissecting aneurysm of aorta.
  
  
  METHODS
  In this article we collected eight patients who were consistent with the diagnosis of Marfan syndrome via phenotypic and genotypic characterization.
  
  
  RESULTS
  Our patients manifested a constellation of variable presentations of musculo-skeletal abnormalities ranging from developmental dysplasia of the hip, protrusio acetabuli, leg length inequality, patellar instability, scoliosis, to early onset osteoarthritis. Each abnormality has been treated accordingly.
  
  
  CONCLUSIONS
  This is the first paper which includes the diagnosis and the management of the associated musculo-skeletal abnormalities in patients with Marfan syndrome, stressing that patients with Marfan syndrome are exhibiting great variability in the natural history and the severity of musculo-skeletal abnormalities.
authors: Ludwig Boltzmann Institute of Osteology, at the Hanusch Hospital of WGKK and, AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria. ; Orthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria.
authors: Ali
authors: A
authors: Al Kaissi
authors: Elisabeth
authors: E
authors: Zwettler
authors: Rudolf
authors: R
authors: Ganger
authors: Simone
authors: S
authors: Schreiner
authors: Klaus
authors: K
authors: Klaushofer
authors: Franz
authors: F
authors: Grill
keywords: Marfan syndrome; genotype; musculo-skeletal abnormalities; phenotype; surgery
references: Clin Orthop Relat Res. 1992 Apr;(277):251-61
references: 1555349
references: Spine (Phila Pa 1976). 1991 Apr;16(4):429-31
references: 1828627
references: Stroke. 1996 Jan;27(1):10-2
references: 8553383
references: J Bone Joint Surg Am. 2006 Mar;88(3):639-46
references: 16510833
references: Clin Genet. 2007 Sep;72(3):188-98
references: 17718856
references: AJR Am J Roentgenol. 2006 May;186(5):1246-51
references: 16632713
references: N Engl J Med. 1994 May 12;330(19):1335-41
references: 8152445
references: J Pediatr Orthop. 2000 Nov-Dec;20(6):718-21
references: 11097242
references: J Pediatr Orthop. 1996 Nov-Dec;16(6):704-18
references: 8906639
references: J Med Genet. 2006 Oct;43(10):769-87
references: 16571647
references: Beitr Orthop Traumatol. 1978 May;25(5):261-5
references: 678280
references: Ann Rheum Dis. 1957 Dec;16(4):494-502
references: 13498604
references: J Pediatr Orthop B. 1997 Oct;6(4):255-9
references: 9343785
references: Clin Genet. 2012 May;81(5):433-42
references: 21564093
references: J Med Genet. 2000 Jan;37(1):9-25
references: 10633129
references: Ann Intern Med. 2000 Oct 17;133(8):635-46
references: 11033593
references: J Bone Joint Surg Am. 1971 Jul;53(5):987-93
references: 5557609
references: J Bone Joint Surg Am. 1979 Jan;61(1):56-62
references: 759437
references: Pediatrics. 1996 Nov;98(5):978-82
references: 8909500