Abstract
A patient with the “13q-” syndrome is reported. The typical association of congenital malformations was found. Multiple and unusual skeletal anomalies included absent thumbs, club-feet, coxa vara, diastasis of the pubic symphisis and extensive spina bifida occulta. These appear to be part of the multiple system involvement due to the chromosomal deletion. Chromosome analysis is indicated in patients with multiple skeletal anomalies, especially if the thumbs and radial axis are involved.
Similar content being viewed by others
References
Allderdice, P. W., Davis, J. G., Miller, O. J., Klinger, H. P., Warburton, D., Miller, D. A., Allen, F. H., Abrams, C. A. L., McGilvray, E.: The 13q-deletion syndrome. Am. J. Hum. Genet. 21, 499–512 (1969)
Cuschieri, A., Vasallo Agius, P., Scheres, J. M. J. C.: Partial deletion of the long arm of chromosome No. 13. Hum. Genet. 36, 341 (1977)
Grace, E., Drennan, J., Colver, D.: The 13q-deletion syndrome. J. med. Genet. 8, 351–357 (1971)
Knudson, A. G., Meadows, A. T., Nichols, W. W., Hill, R.: Chromosomal deletion and retinoblastoma. New Engl. J. Med. 295, 1120–1123 (1976)
Moorhead, P. S., Nowell, P. C., Mellman, W. J., Battips, D. M., Hungerford, D. A.: Chromosome preparations of leukocytes cultured from human peripheral blood. Exp. Cell. Res. 20, 613–616 (1960)
Noel, B., Quack, B., Rethoré, M. O.: Partial detetions and trisomies of chromosome 13: Mapping of bands associated with particular malformations. Clin. Genet. 9, 593–602 (1976)
Orye, E., Delbeke, M. J., Vandenabbele, B.: Retinoblastoma and long arm deletion of chromosome 13: attempts to define the deleted segment. Clin. Genet. 5, 457–464 (1974)
Seabright, M.: Rapid banding technique for human chromosomes. Lancet 1971 II, 971
Wilson, M. G., Towner, J. W., Jujimoto, A.: Retinoblastoma and D-chromosome deletions. Amer. J. Hum. Genet. 25, 57–61 (1973)
Author information
Authors and Affiliations
Additional information
(affiliated with the Hebrew University and Hadassah Medical School)
Rights and permissions
About this article
Cite this article
Chemke, J., Fishel, E., Zalish, M. et al. Multiple skeletal anomalies in the “13q-” syndrome. Eur J Pediatr 128, 27–31 (1978). https://doi.org/10.1007/BF00496923
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00496923