title: 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.
authors.affiliation: Clinical Genetics Unit, Hospitals for Sick Children, London.
authors.forename: E M
authors.initials: EM
authors.lastname: Thompson
authors.forename: M
authors.initials: M
authors.lastname: Baraitser
mesh_terms: D002648:Child; D003103:Coloboma / Q000235:genetics*; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007668:Kidney / Q000002:abnormalities; D008266:Macula Lutea / Q000002:abnormalities*; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014599:Uterus / Q000002:abnormalities