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J Med Genet. 1988 May; 25(5): 313–321.
PMCID: PMC1050457

Sorsby syndrome: a report on further generations of the original family.

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.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.
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  • Smith RD, Fineman RM, Sillence DO, Lester PD, Nixon GW, Rimoin DL, Lachman RS. Congenital macular colobomas and short-limb skeletal dysplasia. Am J Med Genet. 1980;5(4):365–371. [PubMed]
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