Abstract
In a sibship of 11, two brothers with a congenital complete horizontal gaze palsy developed severe kyphoscoliosis. No-one else in the family has a gaze palsy or comparable skeletal abnormalities. Since the parents are first cousins, an autosomal recessive mode of inheritance seems likely.
Full text
PDF


Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- COGAN D. G. A type of congenital ocular motor apraxia presenting jerky head movements. Am J Ophthalmol. 1953 Apr;36(4):433–441. doi: 10.1016/0002-9394(53)90553-4. [DOI] [PubMed] [Google Scholar]
- Colenbrander M. C. Congenital ocular apraxia. Ophthalmologica. 1970;160(1):96–97. doi: 10.1159/000305973. [DOI] [PubMed] [Google Scholar]
- Crisfield R. J. Scoliosis with progressive external ophthalmoplegia in four siblings. J Bone Joint Surg Br. 1974 Aug;56B(3):484–489. [PubMed] [Google Scholar]
- De George F. V., Fisher R. L. Idiopathic scoliosis: genetic and environmental aspects. J Med Genet. 1967 Dec;4(4):251–257. doi: 10.1136/jmg.4.4.251. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Neville B. G., Lake B. D., Stephens R., Sanders M. D. A neurovisceral storage disease with vertical supranuclear ophthalmoplegia, and its relationship to Niemann-Pick disease. A report of nine patients. Brain. 1973;96(1):97–120. doi: 10.1093/brain/96.1.97. [DOI] [PubMed] [Google Scholar]
- Vassella F., Lütschg J., Mumenthaler M. Cogan's congenital ocular motor apraxia in two successive generations. Dev Med Child Neurol. 1972 Dec;14(6):788–796. doi: 10.1111/j.1469-8749.1972.tb03322.x. [DOI] [PubMed] [Google Scholar]
- Wynne-Davies R. Infantile idiopathic scoliosis. Causative factors, particularly in the first six months of life. J Bone Joint Surg Br. 1975 May;57(2):138–141. [PubMed] [Google Scholar]
- Zee D. S., Yee R. D., Singer H. S. Congenital ocular motor apraxia. Brain. 1977 Sep;100(3):581–599. doi: 10.1093/brain/100.3.581. [DOI] [PubMed] [Google Scholar]

