{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T23:45:26Z","timestamp":1788047126944,"version":"build-2784847793"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,4,25]],"date-time":"2016-04-25T00:00:00Z","timestamp":1461542400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2016,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Nail\u2013patella syndrome (<jats:styled-content style=\"fixed-case\">NPS<\/jats:styled-content>) is an inherited disease produced by mutations in the <jats:styled-content style=\"fixed-case\">LMX<\/jats:styled-content>1B gene. It is characterized by fingernail dysplasia, hypoplastic or absent patella, dysplasia of the elbows and iliac horns on X\u2010ray. It is useful to know this syndrome since some patients develop nephropathy and eye abnormalities. There are very few accurate descriptions related to this syndrome in the literature.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>Describe the features of 11 patients with <jats:styled-content style=\"fixed-case\">NPS<\/jats:styled-content> in a paediatric hospital.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We retrospectively reviewed our clinical database of 11 patients with proven diagnosis of <jats:styled-content style=\"fixed-case\">NPS<\/jats:styled-content> from 1977 to 2014. Clinical and radiological features were assessed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Eleven children (seven male\/four female) were included in the study. Mean age at the time of diagnosis was 6.54 years (range 0\u201311 years). Five patients had a family history of <jats:styled-content style=\"fixed-case\">NPS<\/jats:styled-content>. All patients had nail abnormalities (100%), the most frequent finding being hyponychia. Triangular lunulae were observed in four patients. The knee was the most commonly affected joint, aplasia or hypoplasia of the patella being the most usual findings. Only one patient presented renal involvement. The genetic study revealed three different <jats:styled-content style=\"fixed-case\">LMX<\/jats:styled-content>1B mutations.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Nail\u2013patella syndrome is a rare disorder. The aim of the present study is to highlight the importance of nail examination in children with skeletal dysplasias, in order to diagnose the <jats:styled-content style=\"fixed-case\">NPS<\/jats:styled-content>.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.13683","type":"journal-article","created":{"date-parts":[[2016,4,25]],"date-time":"2016-04-25T06:53:58Z","timestamp":1461567238000},"page":"1614-1617","source":"Crossref","is-referenced-by-count":18,"title":["Nail\u2013patella syndrome: report of 11 pediatric cases"],"prefix":"10.1111","volume":"30","author":[{"given":"O.","family":"Figueroa\u2010Silva","sequence":"first","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Vicente","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Agudo","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Baliu\u2010Piqu\u00e9","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"G\u00f3mez\u2010Armayones","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.J.","family":"Aldunce\u2010Soto","sequence":"additional","affiliation":[{"name":"Department of Dermatology Hospital Sant Joan de D\u00e9u University of Barcelona Barcelona 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