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We report the case of a boy diagnosed with TSC at 2 years and 4 months of age, presenting with bilateral macrodactyly of the first three fingers of both hands, with underlying radiographic changes, in whom molecular analysis identified a frameshift mutation on the <jats:italic>TSC1<\/jats:italic> gene (encoding hamartin), leading to a premature stop codon. We reviewed the literature for reported cases of TSC patients with the same manifestation. In four of 14 patients, including ours, macrodactyly caused some type of joint limitation or flexion deformity, thus contradicting the established idea that this is a finding without clinical significance. Our patient is, to our knowledge, the first reported to have clear bilateral involvement. We briefly discuss the underlying mechanism for this phenomenon, which has yet to be fully elucidated, although somatic mosaicism for loss of heterozygosity at TSC loci is a plausible explanation. \u00a9 2016 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37675","type":"journal-article","created":{"date-parts":[[2016,4,27]],"date-time":"2016-04-27T03:40:32Z","timestamp":1461728432000},"page":"1903-1907","source":"Crossref","is-referenced-by-count":12,"title":["Macrodactyly in tuberous sclerosis complex: Case report and review of the literature"],"prefix":"10.1002","volume":"170","author":[{"given":"Mariana","family":"Soeiro e S\u00e1","sequence":"first","affiliation":[{"name":"Servi\u00e7o de Gen\u00e9tica M\u00e9dica, Departamento de Pediatria, Hospital de Santa Maria, Centro Hospitalar Lisboa Norte Centro Acad\u00e9mico de Medicina de Lisboa Lisbon 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