Abstract
Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.
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.
- Bard L. A. Congenital contractural arachnodactyly and intraocular colobomas. Birth Defects Orig Artic Ser. 1979;15(5B):189–205. [PubMed] [Google Scholar]
- Fitch N. Classification and identification of inherited brachydactylies. J Med Genet. 1979 Feb;16(1):36–44. doi: 10.1136/jmg.16.1.36. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Halal F. A new syndrome of severe upper limb hypoplasia and Müllerian duct anomalies. Am J Med Genet. 1986 May;24(1):119–126. doi: 10.1002/ajmg.1320240114. [DOI] [PubMed] [Google Scholar]
- Halal F., Homsy M., Perreault G. Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. Am J Med Genet. 1984 Apr;17(4):753–762. doi: 10.1002/ajmg.1320170406. [DOI] [PubMed] [Google Scholar]
- Phillips C. I., Griffiths D. L. Macular coloboma and skeletal abnormality. Br J Ophthalmol. 1969 May;53(5):346–349. doi: 10.1136/bjo.53.5.346. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Smith R. D., Fineman R. M., Sillence D. O., Lester P. D., Nixon G. W., Rimoin D. L., Lachman R. S. Congenital macular colobomas and short-limb skeletal dysplasia. Am J Med Genet. 1980;5(4):365–371. doi: 10.1002/ajmg.1320050407. [DOI] [PubMed] [Google Scholar]
- Sorsby A. CONGENITAL COLOBOMA OF THE MACULA: TOGETHER WITH AN ACCOUNT OF THE FAMILIAL OCCURRENCE OF BILATERAL MACULAR COLOBOMA IN ASSOCIATION WITH APICAL DYSTROPHY OF HANDS AND FEET. Br J Ophthalmol. 1935 Feb;19(2):65–90. doi: 10.1136/bjo.19.2.65. [DOI] [PMC free article] [PubMed] [Google Scholar]