Literature DB >> 6655670

Hereditary costovertebral dysplasia with malignant cerebral tumour.

T J David, A Glass.   

Abstract

Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib died from a malignant cerebral tumour and the association may be more than fortuitous.

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Year:  1983        PMID: 6655670      PMCID: PMC1049177          DOI: 10.1136/jmg.20.6.441

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  11 in total

1.  Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies. Report of six cases and review of the literature.

Authors:  A Pérez-Comas; J M García-Castro
Journal:  J Pediatr       Date:  1974-09       Impact factor: 4.406

2.  Spondylo-thoracic dysplasia in three sisters.

Authors:  I P Castroviejo; T Rodriguez-Costa; F Castillo
Journal:  Dev Med Child Neurol       Date:  1973-06       Impact factor: 5.449

3.  The autosomal recessive form of spondylocostal dysostosis.

Authors:  P Franceschini; E Grassi; C Fabris; G Bogetti; M Randaccio
Journal:  Radiology       Date:  1974-09       Impact factor: 11.105

4.  Evidence for autosomal recessive inheritance of costovertebral dysplasia.

Authors:  J M Cantú; J Urrusti; G Rosales; A Rojas
Journal:  Clin Genet       Date:  1971       Impact factor: 4.438

5.  Spondylothoracic dysplasia--a syndrome of congenital anomalies.

Authors:  J E Moseley; R J Bonforte
Journal:  Am J Roentgenol Radium Ther Nucl Med       Date:  1969-05

6.  Spondylocostal dysplasia. A dominantly inherited form of short-trunked dwarfism.

Authors:  D L Rimoin; B D Fletcher; V A McKusick
Journal:  Am J Med       Date:  1968-12       Impact factor: 4.965

7.  Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica.

Authors:  R Wynne-Davies
Journal:  J Med Genet       Date:  1975-09       Impact factor: 6.318

8.  [Costovertebral dysostosis and congenital heart disease. Four case-reports (author's transl)].

Authors:  C Delgoffe; J C Hoeffel; A M Worms; M C Bretagne; C Pernot; M Pierson
Journal:  Ann Pediatr (Paris)       Date:  1982-02

9.  Spondylothoracic dysplasia, costovertebral dysplasia, Jarcho-Levin syndrome.

Authors:  S S Gellis; M Feingold
Journal:  Am J Dis Child       Date:  1976-05

10.  Congenital vertebral anomalies and the possible aetiological relationship with spina bifida.

Authors:  R G Lendon; M Lendon; R Wynne-Davies
Journal:  Z Kinderchir       Date:  1981-12
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  3 in total

1.  A gene for autosomal recessive spondylocostal dysostosis maps to 19q13.1-q13.3.

Authors:  P D Turnpenny; M P Bulman; T M Frayling; T K Abu-Nasra; C Garrett; A T Hattersley; S Ellard
Journal:  Am J Hum Genet       Date:  1999-07       Impact factor: 11.025

2.  Novel mutations in DLL3, a somitogenesis gene encoding a ligand for the Notch signalling pathway, cause a consistent pattern of abnormal vertebral segmentation in spondylocostal dysostosis.

Authors:  P D Turnpenny; N Whittock; J Duncan; S Dunwoodie; K Kusumi; S Ellard
Journal:  J Med Genet       Date:  2003-05       Impact factor: 6.318

3.  Congenital spinal deformity in a three generation family.

Authors:  I K Temple; T G Thomas; M Baraitser
Journal:  J Med Genet       Date:  1988-12       Impact factor: 6.318

  3 in total

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