Summary
Antley-Bixler syndrome has the specific features as brachycephaly, craniosynostosis, midface hypoplasia, depressed nasal bridge, proptosis, dysplastic ears, upper respiratory obstruction, radiohumeral synostosis, joint contructures, arachnodactyly, and femoral bowing and fractures. It is a very rare disease and only five cases have been reported. Its etiology and heredity are unknown. All reported cases were sporadic but present case has the counsinship marriage parents, suggesting genetic disorder of autosomal recessive type.
Similar content being viewed by others
Article PDF
References
Antley, R., and Bixler, D. 1975. Trapezoidocephaly, midfacial hypoplasia and cartilage abnormalities with multiple synostoses and skeletal fractures.Birth Defects: Original Article Series 11: 397–401.
DeLozier, C.D., Antley, R.M., Williams, R., Green, N., Heller, R.M., Bixler, D., and Engel, E. 1980. The syndrome of multisynostotic osteodysgenesis with longbone fractures.Am. J. Med. Genet. 7: 391–403.
Robinson, L.K., Powers, N.G., Dunklee, P., Sherman, S., and Jones, K.L. 1982. The Antley-Bixler syndrome.J. Pediatr. 101: 201–205.
Author information
Authors and Affiliations
Rights and permissions
About this article
Cite this article
Yasui, Y., Yamaguchi, A., Itoh, Y. et al. The first case of the Antley-Bixler syndrome with a consanguinity in Japan. Jap J Human Genet 28, 215–220 (1983). https://doi.org/10.1007/BF01876602
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/BF01876602
Keywords
This article is cited by
-
Antley-Bixler syndrome: description of two patients
Skeletal Radiology (1991)