title: [Clinical diagnosis and surgical treatment of congenital contractural arachnodactyly: analysis of 6 cases].
abstract: OBJECTIVE
  To discuss the clinical diagnosis and surgical treatment of congenital contractural arachnodactyly (CCA).
  
  
  METHODS
  The clinical data of 6 CCA patients, 1 male and 5 female, aged 7.5 (5-14) were analyzed. All cases had kyphoscoliosis, 2 in the thoracic segments and 4 in the thoracolumbar segments. The average scoliosis Cobb angle was 88.6 degrees (85 degrees-117 degrees). The average kyphosis Cobb angle was 93.6 degrees (75 degrees-123 degrees). All of the cases underwent internal fixation with pedicle screw and lamina hooks instrumentation, in which 4 cases underwent posterior Smith-Petersen osteotomy. The diagnosis was based on a constellation of clinical findings. The clinical manifestations included marfanoid habitus, flexion contractures of multiple joints (elbow, knee, hip, and finger), kyphoscoliosis, muscular hypoplasia, and abnormal pinnae ("crumpled" outer helices). Molecular genetic testing showed mutation in the fibrillin-2 (FBN2) gene encoding the extracellular matrix microfibril. Four cases were followed up for 6-9 months.
  
  
  RESULTS
  After operation the average Cobb angle of the scoliosis and kyphosis were 37.6 degrees (35 degrees-52 degrees) and 38.6 degrees (28 degrees-54 degrees) immediately, with 62.3% and 68.7% curve correction respectively. Three cases got excellent synostosis of posterior lamina, 1 case underwent revision with lamina hook because the distal screw was loose and hurt the nerve root, and the other 2 cases lost follow-up. The patients' body appearance and pulmonary function were obviously improved.
  
  
  CONCLUSIONS
  The characteristic clinical manifestation include severe and stiff kyphoscoliosis, difficult to correct , and enhanced Cobb angle, and pedicle dysplasia of vertebral pedicle leading to difficulty in installing screws. Smith-Petersen osteotomy is often necessary. CCA should be differentiated with Marfan syndrome (MFS), Stickler syndrome, Homocystinuria, and distal arthrogryposis, especially MFS.
authors.affiliation: Department of Orthopedics, Peking Union medical College Hospital, Peking Union Medical College, Beijing 100730, China.
authors.forename: Xue-song
authors.initials: XS
authors.lastname: Wang
authors.forename: Jian-guo
authors.initials: JG
authors.lastname: Zhang
authors.forename: Gui-xing
authors.initials: GX
authors.lastname: Qiu
authors.forename: Xi-sheng
authors.initials: XS
authors.lastname: Weng
authors.forename: Zeng-xin
authors.initials: ZX
authors.lastname: Gao
authors.forename: Wen-can
authors.initials: WC
authors.lastname: Lu
authors.forename: Li-juan
authors.initials: LJ
authors.lastname: Zhao
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000601:surgery*; D000293:Adolescent; D054119:Arachnodactyly / Q000175:diagnosis* / Q000601:surgery*; D002648:Child; D002675:Child, Preschool; D003286:Contracture / Q000151:congenital / Q000175:diagnosis / Q000601:surgery; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000601:surgery; D012600:Scoliosis / Q000175:diagnosis / Q000601:surgery