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Logo of jmedgeneJournal of Medical GeneticsVisit this articleSubmit a manuscriptReceive email alertsContact usBMJ
J Med Genet. 1988 May; 25(5): 313–321.
PMCID: PMC1050457

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


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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