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During follow\u2010up, we observed abnormalities of vision, hearing, voice, and progression of craniofacial features in the form of skeletal dysplasia with affected skull, dentition, spine, limbs, fingers, and toes. Low bone mineral density and history of fragility fractures also suggested primary osteoporosis being a clinical manifestation. According to Stengel\u2010Rutkowski, Schimanek, and Wernheimer (1984; <jats:italic>Human Genetics<\/jats:italic>, <jats:italic>6<\/jats:italic>, 272\u2013295), systematic data acquisition has been used for quantitative analysis of anthropological, radiographic, and clinical features at childhood, adolescence, and young adulthood separately. A detailed phenotype description together with the results of reanalysis of 14 reports so far published on patients with HJCYS and <jats:italic>NOTCH<\/jats:italic>2 mutation showed similar phenotype evolution with age. The spectrum of observed features may improve diagnostic tools for HJCYS at different periods of the lifespan.<\/jats:p>","DOI":"10.1002\/ajmg.a.40431","type":"journal-article","created":{"date-parts":[[2018,10,17]],"date-time":"2018-10-17T14:13:05Z","timestamp":1539785585000},"page":"2382-2388","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["A 23\u2010year follow\u2010up of a male with Hajdu\u2010Cheney syndrome due to <i>NOTCH2<\/i> mutation"],"prefix":"10.1002","volume":"176","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9889-1969","authenticated-orcid":false,"given":"Alina T.","family":"Midro","sequence":"first","affiliation":[{"name":"Department of Clinical Genetics Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Stasiewicz\u2010Jarocka","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Borys","sequence":"additional","affiliation":[{"name":"Clinic of Maxillo\u2010Facial Surgery Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kazimierz","family":"Koz\u0142owski","sequence":"additional","affiliation":[{"name":"Department of Medical Imaging The Children's Hospital at Westmead  Sydney New South Wales Australia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bo\u017cena","family":"Skotnicka","sequence":"additional","affiliation":[{"name":"Department of Pediatric Otolaryngology Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eugeniusz","family":"Taras\u00f3w","sequence":"additional","affiliation":[{"name":"Department of Radiology Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ewa","family":"Hubert","sequence":"additional","affiliation":[{"name":"Clinic of Maxillo\u2010Facial Surgery Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jerzy","family":"Konstantynowicz","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Rheumatology, Immunology and Metabolic Bone Diseases Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Panasiuk","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Rydzanicz","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Agnieszka","family":"Pollak","sequence":"additional","affiliation":[{"name":"World Hearing Center Institute of Physiology and Pathology of Hearing  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Piotr","family":"Stawi\u0144ski","sequence":"additional","affiliation":[{"name":"World Hearing Center Institute of Physiology and Pathology of Hearing  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rafa\u0142","family":"Skowro\u0144ski","sequence":"additional","affiliation":[{"name":"Department of Orthopaedics and Traumatology Medical University  Bialystok Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6286-5526","authenticated-orcid":false,"given":"Rafa\u0142","family":"P\u0142oski","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Medical University  Warsaw Poland"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2018,10,17]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010515)100:4<292::AID-AJMG1308>3.0.CO;2-4"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/MCD.0000000000000034"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0933-3657(94)90056-6"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.778"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkw1039"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21546"},{"issue":"16","key":"e_1_2_8_8_1","doi-asserted-by":"crossref","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","article-title":"A simple salting out procedure for extracting DNA from human nucleated cells","volume":"11","author":"Miller S. 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