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Skeletal Changes in the «Cri du Chat» Syndrome*

Published online by Cambridge University Press:  01 August 2014

B. Dallapiccola ,
G. Pistocchi ,
A. Forabosco  and
L. Capra
B. Dallapiccola*
Affiliation:
Medical Clinic, University of Ferrara, Italy
G. Pistocchi
Affiliation:
Department of Radiology, University of Ferrara, Italy
A. Forabosco
Affiliation:
Institute of Anatomy, University of Modena, Italy
L. Capra
Affiliation:
Medical Clinic, University of Ferrara, Italy
*
Clinica Medica dell'Università, 44100 Ferrara, Italy

Summary

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A radiological investigation was carried out in a group of patients with the “cri du chat” syndrome. The most striking skeletal abnormalities associated with the 5p- chromosome anomaly include microcephaly hypertelorism, narrowing of the wings of ilia, which often appear rectangular in shape. In older patients additional consistent radiological features include large frontal sinuses, malocclusions, scoliosis, shortness of some metacarpal and metatarsal bones. The radiological investigations in the “cri du chat” syndrome, although of small diagnostic aid, appear to be useful for a detailed characterization of the malformations.

Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 22 , Issue 1 , January 1973 , pp. 39 - 44
Copyright
Copyright © The International Society for Twin Studies 1973

Footnotes

*

Presented at the 4th International Conference on Birth Defects, Vienna 2-8 September 1973.

References

REFERENCES

Breg, R.W., Steele, M.W., Miller, O.J., Warburton, D., Capoa de, A., Allderdice, P.W. 1970. The cri du chat syndrome in adolescents and adults: clinical findings in 13 older patients with partial deletion of the short arm of chromosome no. 5 (5p-). Pediatrics, 77: 782–791.Google Scholar
James, A.E., Atkins, L., Feingold, M., Janower, M.L. 1969. The cri du chat syndrome. Radiology, 92: 50–52.CrossRefGoogle ScholarPubMed
Labrune, M., Lefebvre, J., Lafourcade, J., Lejeune, J. 1967. Étude des signes radiologiques de la maladie du cri du chat. Ann. Radiol., 10: 303–310.Google Scholar