Literature DB >> 16555077

Congenital cervical instability in a patient with camptomelic dysplasia.

Gregory P Lekovic1, Harold L Rekate, Curtis A Dickman, Margaret Pearson.   

Abstract

INTRODUCTION: Camptomelic dysplasia (CD) is a rare autosomal dominant skeletal dysplasia classically characterized by bent bones of the extremities, tracheobronchial narrowing, thoracic kyphoscoliosis, and various degrees of phenotypic sex reversal. Most patients die of complications in infancy, although long-term survivors have been reported. CASE REPORT: We report a case of CD complicated by incomplete ossification of the cervical vertebral pedicles, resulting in congenital cervical instability and kyphosis. Closed reduction was performed, and the patient was fitted with a customized cervical orthosis. FINDING: He subsequently developed a complete spinal cord injury at the kyphotic level. This underscores the grim prognosis associated with neonatal cervical spinal instability.

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Year:  2006        PMID: 16555077     DOI: 10.1007/s00381-006-0071-1

Source DB:  PubMed          Journal:  Childs Nerv Syst        ISSN: 0256-7040            Impact factor:   1.475


  8 in total

1.  The phenotype of survivors of campomelic dysplasia.

Authors:  S Mansour; A C Offiah; S McDowall; P Sim; J Tolmie; C Hall
Journal:  J Med Genet       Date:  2002-08       Impact factor: 6.318

2.  The treatment of progressive kyphoscoliosis in camptomelic dysplasia.

Authors:  S Thomas; R B Winter; J E Lonstein
Journal:  Spine (Phila Pa 1976)       Date:  1997-06-15       Impact factor: 3.468

3.  Variable expression of campomelic dysplasia in a father and his 46, XY daughter.

Authors:  Ravi Savarirayan; Stephen P Robertson; Agnes Bankier; John G Rogers
Journal:  Pediatr Pathol Mol Med       Date:  2003 Jan-Feb

4.  L-Sox5, Sox6 and Sox9 control essential steps of the chondrocyte differentiation pathway.

Authors:  V Lefebvre; R R Behringer; B de Crombrugghe
Journal:  Osteoarthritis Cartilage       Date:  2001       Impact factor: 6.576

5.  The results of spinal arthrodesis for congenital spinal deformity in patients younger than five years old.

Authors:  R B Winter; J H Moe
Journal:  J Bone Joint Surg Am       Date:  1982-03       Impact factor: 5.284

6.  Campomelic dysplasia--an underdiagnosed condition?

Authors:  E K Normann; J C Pedersen; G Stiris; C B van der Hagen
Journal:  Eur J Pediatr       Date:  1993-04       Impact factor: 3.183

7.  Sox9 is required for cartilage formation.

Authors:  W Bi; J M Deng; Z Zhang; R R Behringer; B de Crombrugghe
Journal:  Nat Genet       Date:  1999-05       Impact factor: 38.330

Review 8.  Spinal abnormalities in camptomelic dysplasia.

Authors:  M F Coscia; G S Bassett; J R Bowen; J W Ogilvie; R B Winter; S C Simonton
Journal:  J Pediatr Orthop       Date:  1989 Jan-Feb       Impact factor: 2.324

  8 in total
  5 in total

1.  Mild Campomelic Dysplasia: Report on a Case and Review.

Authors:  S Corbani; E Chouery; B Eid; N Jalkh; J Abou Ghoch; A Mégarbané
Journal:  Mol Syndromol       Date:  2011-01-10

2.  Cervico-thoracic kyphosis in a girl with Pierre Robin sequence.

Authors:  Ali Al Kaissi; Rudolf Ganger; Klaus Klaushofer; Franz Grill
Journal:  Ger Med Sci       Date:  2011-03-14

3.  Identification of clinical and radiographic predictors of central nervous system injury in genetic skeletal disorders.

Authors:  Antônio L Cunha; Ana P S Champs; Carla M Mello; Mônica M M Navarro; Frederico J C Godinho; Cássia M B Carvalho; Teresa C A Ferrari
Journal:  Sci Rep       Date:  2021-05-31       Impact factor: 4.379

4.  Identification of a susceptibility locus for severe adolescent idiopathic scoliosis on chromosome 17q24.3.

Authors:  Atsushi Miyake; Ikuyo Kou; Yohei Takahashi; Todd A Johnson; Yoji Ogura; Jin Dai; Xusheng Qiu; Atsushi Takahashi; Hua Jiang; Huang Yan; Katsuki Kono; Noriaki Kawakami; Koki Uno; Manabu Ito; Shohei Minami; Haruhisa Yanagida; Hiroshi Taneichi; Naoya Hosono; Taichi Tsuji; Teppei Suzuki; Hideki Sudo; Toshiaki Kotani; Ikuho Yonezawa; Michiaki Kubo; Tatsuhiko Tsunoda; Kota Watanabe; Kazuhiro Chiba; Yoshiaki Toyama; Yong Qiu; Morio Matsumoto; Shiro Ikegawa
Journal:  PLoS One       Date:  2013-09-04       Impact factor: 3.240

Review 5.  Genomic study of adolescent idiopathic scoliosis in Japan.

Authors:  Shiro Ikegawa
Journal:  Scoliosis Spinal Disord       Date:  2016-04-01
  5 in total

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