{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,9]],"date-time":"2026-05-09T21:38:33Z","timestamp":1778362713863,"version":"3.51.4"},"reference-count":11,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T00:00:00Z","timestamp":1429574400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2015,6]]},"abstract":"<jats:sec><jats:label\/><jats:p>Frontometaphyseal dysplasia (FMD) is a distinctive sclerosing skeletal dysplasia associated with a number of non\u2010skeletal manifestations including hearing loss, cardiac malformations, and stenosis, particularly of the upper airway and urinary tract. Some, but not all, patients have mutations in <jats:italic>FLNA<\/jats:italic> causing the condition. Consonant with the X chromosomal location of <jats:italic>FLNA<\/jats:italic> males are generally more severely affected than females. <jats:italic>FLNA<\/jats:italic> mutations can be detected in 82% of affected males. We describe seven patients (one male, six females) all of whom have the major clinical and radiological features of FMD, but without detectable mutations in <jats:italic>FLNA<\/jats:italic>. The females in our cohort are affected to a similar degree as is usually found in males. In addition, all patients have marked keloid formation at various body sites, including the eye, from an early age. Other features that may indicate a different etiology in these patients are the increased frequency of cleft palate, Robin sequence, tracheal stenosis, and mild intellectual disability, which all occur in three of more patients in the present group. All patients are isolated. We hypothesize that the presently reported patients represent further evidence that phenotypes strongly resembling FMD exist that are not accounted for by mutations in <jats:italic>FLNA<\/jats:italic>. Since the frequency of several of the manifestations, their sporadic presentations, and the presence of keloid formation differ from the X\u2010linked form of this condition we propose de novo autosomal dominant acting mutations in a gene functionally related to <jats:italic>FLNA<\/jats:italic>, underpin this disorder. \u00a9 2015 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/ajmg.a.37044","type":"journal-article","created":{"date-parts":[[2015,4,21]],"date-time":"2015-04-21T06:00:28Z","timestamp":1429596028000},"page":"1215-1222","source":"Crossref","is-referenced-by-count":9,"title":["Frontometaphyseal dysplasia and keloid formation without <i>FLNA<\/i> mutations"],"prefix":"10.1002","volume":"167","author":[{"given":"Hanneke","family":"Basart","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"},{"name":"Department of Plastic and Reconstructive Surgery Academic Medical Center, University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annekatrien","family":"van de Kar","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Academic Medical Center, University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lesley","family":"Ad\u00e8s","sequence":"additional","affiliation":[{"name":"Discipline of Pediatrics and Child Health, Department of Clinical Genetics University of Sydney, The Children's Hospital Westmead Sydney Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tae\u2010Joon","family":"Cho","sequence":"additional","affiliation":[{"name":"Division of Pediatric Orthopedics Seoul National University Children's Hospital Seoul Republic of Korea"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"Carter","sequence":"additional","affiliation":[{"name":"Kathryn O. and Alan C. Greenberg Center for Skeletal Dysplasias Hospital for Special Surgery New York New York"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Saskia M.","family":"Maas","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Louise C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Clinical Genetics Unit Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chantal M. A. M.","family":"van der Horst","sequence":"additional","affiliation":[{"name":"Department of Plastic and Reconstructive Surgery Academic Medical Center, University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma M.","family":"Wade","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health Dunedin School of Medicine, University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stephen P.","family":"Robertson","sequence":"additional","affiliation":[{"name":"Department of Women's and Children's Health Dunedin School of Medicine, University of Otago Dunedin New Zealand"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Raoul C.","family":"Hennekam","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"},{"name":"Department of Clinical Genetics, Academic Medical Center University of Amsterdam Amsterdam The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2015,4,21]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36713"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31674"},{"key":"e_1_2_5_4_1","volume-title":"Gorlin's syndromes of the head and neck","author":"Hennekam RC","year":"2010"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31696"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2005.04.001"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31322"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1119"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2010.06.008"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/bjd.13124"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(20000228)90:5<407::AID-AJMG11>3.0.CO;2-D"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31213"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37044","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.37044","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.37044","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,7]],"date-time":"2023-10-07T01:46:21Z","timestamp":1696643181000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.37044"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,4,21]]},"references-count":11,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2015,6]]}},"alternative-id":["10.1002\/ajmg.a.37044"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.37044","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,4,21]]}}}