Spondylocostal dysostosis: an example of autosomal dominant transmission in a large family
- 28 June 2008
- journal article
- research article
- Published by Wiley in Clinical Genetics
- Vol. 36 (4) , 236-241
- https://doi.org/10.1111/j.1399-0004.1989.tb03196.x
Abstract
This report gives a description of a three-generation family in which spondylocostal dysostosis associated with previously unreported neurological complaints occurred in five family members, suggesting autosomal dominant inheritance. A review of the literature is presented and previously unreported neurological complaints, e.g. neurogenic claudicatio, are emphasized.Keywords
This publication has 12 references indexed in Scilit:
- Spondylocostal/spondylothoracic dysostosis: The clinical basis for prognosticating and genetic counselingAmerican Journal of Medical Genetics, 1986
- Hereditary costovertebral dysplasia with malignant cerebral tumour.Journal of Medical Genetics, 1983
- Spondylocostal dysostosis associated with anal and urogenital anomalies in a Mennonite sibshipAmerican Journal of Medical Genetics, 1981
- International nomenclature of constitutional diseases of bone: Revision—May 1977American Journal of Medical Genetics, 1979
- Recessive spondylocostal dysostosis: Two new casesClinical Genetics, 1978
- Spondylocostal dysostosis and urinary tract anomaly: Definition and review of an entityEuropean Journal of Pediatrics, 1978
- Occipito-facial-cervico-thoracic-abdomino-digital dysplasia; Jarcho-Levin syndrome of vertebral anomalies: Report of six cases and review of the literatureThe Journal of Pediatrics, 1974
- Evidence for autosomal recessive inheritance of costovertebral dysplasiaClinical Genetics, 1971
- Spondylocostal dysplasiaThe American Journal of Medicine, 1968
- A syndrome of bizarre vertebral anomaliesThe Journal of Pediatrics, 1966