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Case Reports
. 1988 May;25(5):313-21.
doi: 10.1136/jmg.25.5.313.

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

E M Thompson  1 , M Baraitser
Affiliations
Case Reports

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

E M Thompson et al. J Med Genet. 1988 May.

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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References

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