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Phenotypic Characteristics of Patients With a TGFB3 Mutation
Observed clinical features include: long face (1-III:11, 5-II:1, 7-II:1, 8-II:1); pectus carinatum (1-IV:2); hypertelorism (2-III:7, 2-IV:2, 2-IV:3, 7-II:1, 8-II:1); bifid uvula (2-III:7, 2-IV:3, 7-II:1); joint hypermobility (2-IV:2); arachnodactyly (5-II:1); and metatarsus adductus (8-III:1). All affected individuals or parents gave permission to publish these photographs.
