Sorsby syndrome: a report on further generations of the original family.
- 1 May 1988
- journal article
- research article
- Published by BMJ in Journal of Medical Genetics
- Vol. 25 (5) , 313-321
- https://doi.org/10.1136/jmg.25.5.313
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.This publication has 8 references indexed in Scilit:
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