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Spinal Cord Involvement in Heritable Skeletal Dysplasias

Published online by Cambridge University Press:  01 August 2014

A.B. Todorov ,
S.E. Kopits  and
G.B. Udvarhelyi
A.B. Todorov*
Affiliation:
Division of Medical Genetics, Department of Medicine, The Johns Hopkins University School of Medicine
S.E. Kopits
Affiliation:
Department of Orthopedic Surgery and Pediatrics, The Johns Hopkins University School of Medicine
G.B. Udvarhelyi
Affiliation:
Department of Neurological Surgery, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
*
Division of Medical Genetics, Department of Medicine, The Johns Hopkins University School of Medicine, Baltimore, Maryland, USA

Abstract

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The neurological complications encountered in selected heritable skeletal dysplasias are described. The neurologic deficit may be caused by static (localized spinal cord compression; small spinal canal syndrome) or dynamic (atlantoaxial dislocation) involvement of the spinal cord. The neurologic symptoms have to be recognized early, as neurosurgical management is possible and may definitely improve the neurological condition.

Type
5. Free Contributions: First Group
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 23 , supplement S1 , January 1974 , pp. 181 - 186
Copyright
Copyright © The International Society for Twin Studies 1974

References

REFERENCES

Cohen, M.E., Rosenthal, A.D., Matson, D.D. 1967. Neurological abnormalities in achondroplastic children. J. Pediatr., 71: 367–376.Google Scholar
Donath, J., Vogl, A. 1925. Untersuchungen über den chondrodystrophischen Zwergwuchs. Wien. Arch. Inn. Med., 10: 1.Google Scholar
Hancock, D.O., Phillips, D.G., 1965. Spinal compression in achondroplasia. Paraplegia, 3: 23–33.Google ScholarPubMed
Kopits, S.E., Perovic, M.N., McKusick, V.A., Robinson, R.A., Bailey, J.A. 1972. III, Congenital atlanto-axial dislocation in various forms of dwarfism. J. Bone Joint Surgery [Am.], 54: 1349–1350.Google Scholar
Langer, L.O., Carey, L.S. 1966. The roentgenographic features of the KS-mucopolysaccharidosis of Morquio's (Morquio-Brailford's disease). Am. J. Roentgenol. Radium Ther. Nucl. Med., 97: 1.Google Scholar
Naffah, J. 1973. Familial Dyggve-Melchior-Clausen syndrome with hypoplasia of the odontoid process and abnormality of urinary mucopolysaccharides. 4th Int. Conf. Birth Defects, Vienna 1973. Amsterdam: Excerpta Medica, Int. Congr. Ser. No. 297, p. 44–45.Google Scholar
Nelson, M.A. 1970. Orthopaedic aspects of the chondrodystrophies. Ann. R. Coll. Surg. Engl., 47: 185–210.Google ScholarPubMed
Perovic, M.N., Kopits, S.E., Thompson, R.C. 1973. Radiological evaluation of the spinal cord in congenital atlanto-axial dislocation. Radiology, 109: 713–716.Google Scholar
Scott, C.I. Jr. 1971. Unusual facies, joint hypermobility, genital anomaly and short stature: a new dysmorphic syndrome. Birth Defects, 7: 240–246.Google Scholar
Wadia, N.H. 1973. The distinctive neurological manifestations of congenital atlanto-axial dislocation. 10th Int. Congr. Neurology, Barcelona 1973. Amsterdam: Excerpta Medica, Int. Congr. Ser. No. 296, p. 8.Google Scholar
Yang, S.S. 1973. Personal communication.Google Scholar
Yoshikawa, S., Shiba, M., Suzuki, A. 1968. Spinal cord compression in untreated adult cases of vitamin-D-resistant rickets. J. Bone Joint Surg. [Am.], 50: 743–752.Google Scholar