{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T13:22:41Z","timestamp":1778678561494,"version":"3.51.4"},"reference-count":7,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2019,8,12]],"date-time":"2019-08-12T00:00:00Z","timestamp":1565568000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2019,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Lenz\u2013Majewski syndrome (LMS) is an extremely rare type of cutis laxa caused by dominant mutations in <jats:italic>PTDSS1<\/jats:italic> gene. We report an Egyptian patient who presented with cutis laxa, brachydactyly, and progeroid features. LMS syndrome was suspected and a previously reported de novo heterozygous missense mutation (c.284G\u2009&gt;\u2009T, p.R95L) in <jats:italic>PTDSS1<\/jats:italic> was identified. To the best of our knowledge, nine molecularly proven patients with LMS from different ethnicities have been reported. Our patient is the first report from the Middle East and the tenth molecularly proven patient reported to date. His clinical features were in accordance with LMS syndrome. In addition, his hands X\u2010ray images showed hypoplastic or absent middle and proximal phalanges but sparing the thumbs. This hand patterning was similarly observed before. Further, he had relatively large and convex fingernails. Our report highlights this unique hand patterning and suggests these signs should be considered among the diagnostic criteria of LMS. Further reports of patients with <jats:italic>PTDSS1<\/jats:italic> mutations are necessary to further elucidate the detailed clinical features of LMS syndrome.<\/jats:p>","DOI":"10.1002\/ajmg.a.61327","type":"journal-article","created":{"date-parts":[[2019,8,12]],"date-time":"2019-08-12T09:28:48Z","timestamp":1565602128000},"page":"2039-2042","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Lenz\u2013Majewski syndrome in a patient from Egypt"],"prefix":"10.1002","volume":"179","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2502-4776","authenticated-orcid":false,"given":"Hanan H.","family":"Afifi","sequence":"first","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2480-0147","authenticated-orcid":false,"given":"Mohamed S.","family":"Abdel\u2010Hamid","sequence":"additional","affiliation":[{"name":"Medical Molecular Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4500-4024","authenticated-orcid":false,"given":"Mennat I.","family":"Mehrez","sequence":"additional","affiliation":[{"name":"Orodental Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ghada","family":"El\u2010Kamah","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2893-8802","authenticated-orcid":false,"given":"Ghada M. H.","family":"Abdel\u2010Salam","sequence":"additional","affiliation":[{"name":"Clinical Genetics Department, Human Genetics and Genome Research Division National Research Centre  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2019,8,12]]},"reference":[{"key":"e_1_2_5_2_1","unstructured":"OMIM (Online Mendelian Inheritance in Man).2019. Mc Kusick\u2010Nathans Institute for Genetic Medicine John Hopkins University (Baltiomore MD) and National Center for Biotechnology Information National Library of Medicine (Bethesda MD).http:\/\/www.ncbi.nlm.nih.gov\/omim\/. Last accessed May 20 2019."},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38604"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.12688\/f1000research.17314.1"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1042\/BJ20040443"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.2829"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2015.06.002"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/jbmr.2398"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61327","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.61327","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.61327","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,7]],"date-time":"2023-09-07T12:53:14Z","timestamp":1694091194000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.61327"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,12]]},"references-count":7,"journal-issue":{"issue":"10","published-print":{"date-parts":[[2019,10]]}},"alternative-id":["10.1002\/ajmg.a.61327"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.61327","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,8,12]]},"assertion":[{"value":"2019-06-13","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-07-29","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2019-08-12","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}