{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T13:38:37Z","timestamp":1791898717462,"version":"4.3.4"},"reference-count":25,"publisher":"BMJ","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2005,2]]},"abstract":"Primary congenital lymphoedema (Milroy disease) is a rare autosomal dominant condition for which a major causative gene defect has recently been determined. Mutations in the vascular endothelial growth factor receptor 3 (VEGFR-3<\/jats:italic>) gene have now been described in 13 families world-wide. This is a review of the condition based on the clinical findings in 71 subjects from 10 families. All 71 individuals have a mutation in VEGFR-3<\/jats:italic>. Ninety per cent of the 71 individuals carrying a VEGFR-3<\/jats:italic> mutation showed signs of oedema, which was confined in all cases to the lower limbs. In all but two cases onset of swelling was from birth. Other symptoms and signs included cellulitis (20%), large calibre leg veins (23%), papillomatosis (10%), and upslanting toenails (10%). In males, hydrocoele was the next most common finding after oedema (37%). Thorough clinical examination of these patients indicates that there are few clinical signs in addition to lower limb oedema. Rigorous phenotyping of patients produces a high yield of VEGFR-3<\/jats:italic> mutations.<\/jats:p>","DOI":"10.1136\/jmg.2004.024802","type":"journal-article","created":{"date-parts":[[2005,2,2]],"date-time":"2005-02-02T14:19:39Z","timestamp":1107353979000},"page":"98-102","source":"Crossref","is-referenced-by-count":161,"title":["Milroy disease and the VEGFR-3<\/i> mutation phenotype"],"prefix":"10.1136","volume":"42","author":[{"given":"G","family":"Brice","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A H","family":"Child","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Evans","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R","family":"Bell","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Mansour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K","family":"Burnand","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M","family":"Sarfarazi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S","family":"Jeffery","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P","family":"Mortimer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[2005,2,2]]},"reference":[{"key":"2025101800180721000_42.2.98.1","unstructured":"Milroy WF. An undescribed variety of hereditary oedema. N Y Med J Nov 5 1892."},{"key":"2025101800180721000_42.2.98.2","doi-asserted-by":"publisher","DOI":"10.1001\/jama.1928.02700160024005"},{"key":"2025101800180721000_42.2.98.3","unstructured":"Osler W . The principles and practice of medicine. 4th ed. New York: D Appleton and Co, 1901."},{"key":"2025101800180721000_42.2.98.4","first-page":"499","volume":"13","year":"1995","journal-title":"Clin Exp Dermatol"},{"key":"2025101800180721000_42.2.98.5","first-page":"341","volume":"6","year":"1898","journal-title":"Press Med"},{"key":"2025101800180721000_42.2.98.6","first-page":"2073","volume":"13","year":"1998","journal-title":"Hum Mol Genet"},{"key":"2025101800180721000_42.2.98.7","doi-asserted-by":"publisher","DOI":"10.1086\/302248"},{"key":"2025101800180721000_42.2.98.8","doi-asserted-by":"publisher","DOI":"10.1038\/75997"},{"key":"2025101800180721000_42.2.98.9","doi-asserted-by":"publisher","DOI":"10.1086\/303019"},{"key":"2025101800180721000_42.2.98.10","doi-asserted-by":"publisher","DOI":"10.1038\/ni1013"},{"key":"2025101800180721000_42.2.98.11","doi-asserted-by":"publisher","DOI":"10.1086\/316915"},{"key":"2025101800180721000_42.2.98.12","doi-asserted-by":"publisher","DOI":"10.1007\/s004390100528"},{"key":"2025101800180721000_42.2.98.13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.478"},{"key":"2025101800180721000_42.2.98.14","doi-asserted-by":"publisher","DOI":"10.1086\/375614"},{"key":"2025101800180721000_42.2.98.15","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010201)98:4<303::AID-AJMG1113>3.0.CO;2-9"},{"key":"2025101800180721000_42.2.98.16","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.697"},{"key":"2025101800180721000_42.2.98.17","unstructured":"Burnand KG, Mortimer PS, Partsch H. Diagnosis and investigation of lymphoedema. In: Browse NL, Burnand KG, Mortimer PS, eds. Diseases of the lymphatics. London: Arnold, 2003:110\u201350."},{"key":"2025101800180721000_42.2.98.18","doi-asserted-by":"publisher","DOI":"10.1067\/mpd.2003.235"},{"key":"2025101800180721000_42.2.98.19","doi-asserted-by":"publisher","DOI":"10.1126\/science.282.5390.946"},{"key":"2025101800180721000_42.2.98.20","doi-asserted-by":"publisher","DOI":"10.1038\/84651"},{"key":"2025101800180721000_42.2.98.21","first-page":"27","volume":"16","year":"1983","journal-title":"Lymphology"},{"key":"2025101800180721000_42.2.98.22","unstructured":"Burnand KG, Mortimer PS, Partsch H. Diagnosis and investigation of lymphoedema. In: Browse NL, Burnand KG, Mortimer PS, eds. Diseases of the lymphatics. London: Arnold, 2003:123."},{"key":"2025101800180721000_42.2.98.23","unstructured":"Moore KL, Persaud TVN, eds. The developing human. 7th ed. 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