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. 1991 Jan;28(1):51–53. doi: 10.1136/jmg.28.1.51

Spondylocostal dysplasia and neural tube defects.

G P Giacoia 1, B Say 1
PMCID: PMC1016749  PMID: 1999834

Abstract

Spondylocostal dysplasia (Jarcho-Levin syndrome) comprises multiple malformations of the vertebrae and ribs coupled with a characteristic clinical picture of short neck, scoliosis, short trunk, and deformity of the rib cage. We describe a patient with the syndrome who also had spina bifida and diastematomyelia. We surmise that this association is not coincidental. Additional evidence is needed to support the hypothesis that spondylocostal dysplasia and neural tube defects are aetiologically related.

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Selected References

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  1. Aymé S., Preus M. Spondylocostal/spondylothoracic dysostosis: the clinical basis for prognosticating and genetic counseling. Am J Med Genet. 1986 Aug;24(4):599–606. doi: 10.1002/ajmg.1320240403. [DOI] [PubMed] [Google Scholar]
  2. Eller J. L., Morton J. M. Bizarre deformities in offspring of user of lysergic acid diethylamide. N Engl J Med. 1970 Aug 20;283(8):395–397. doi: 10.1056/NEJM197008202830803. [DOI] [PubMed] [Google Scholar]
  3. Emery J. L., Lendon R. G. The local cord lesion in neurospinal dysraphism (meningomyelocele). J Pathol. 1973 May;110(1):83–96. doi: 10.1002/path.1711100110. [DOI] [PubMed] [Google Scholar]
  4. Herold H. Z., Edlitz M., Baruchin A. Spondylothoracic dysplasia. A report of ten cases with follow-up. Spine (Phila Pa 1976) 1988 May;13(5):478–481. [PubMed] [Google Scholar]
  5. Lendon R. G., Wynne-Davies R., Lendon M. Are congenital vertebral anomalies and spina bifida cystica aetiologically related? J Med Genet. 1981 Dec;18(6):424–427. doi: 10.1136/jmg.18.6.424. [DOI] [PMC free article] [PubMed] [Google Scholar]
  6. McLennan J. E. Rib anomalies in myelodysplasia. An approach to embryologic inference. Biol Neonate. 1976;29(3-4):129–141. doi: 10.1159/000240857. [DOI] [PubMed] [Google Scholar]
  7. Naik D. R., Lendon R. G., Barson A. J. A radiological study of vertebral and rib malformations in children with myelomeningocele. Clin Radiol. 1978 Jul;29(4):427–430. doi: 10.1016/s0009-9260(78)80105-6. [DOI] [PubMed] [Google Scholar]
  8. Poor M. A., Alberti O., Jr, Griscom N. T., Driscoll S. G., Holmes L. B. Nonskeletal malformations in one of three siblings with Jarcho-Levin syndrome of vertebral anomalies. J Pediatr. 1983 Aug;103(2):270–272. doi: 10.1016/s0022-3476(83)80365-5. [DOI] [PubMed] [Google Scholar]
  9. Reyes M. G., Morales A., Harris V., Barreta T. M., Goldbarg H. Neural defects in Jarcho-Levin syndrome. J Child Neurol. 1989 Jan;4(1):51–54. doi: 10.1177/088307388900400109. [DOI] [PubMed] [Google Scholar]
  10. Wynne-Davies R. Congenital vertebral anomalies: aetiology and relationship to spina bifida cystica. J Med Genet. 1975 Sep;12(3):280–288. doi: 10.1136/jmg.12.3.280. [DOI] [PMC free article] [PubMed] [Google Scholar]

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