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.
No takes yet. Share an insight, caveat, or question.
Thompson et al. (1988) studied this question.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: