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To date, only 24 cases have been reported. Here, we describe two brothers initially suspected to have Smith\u2013Lemli\u2013Opitz syndrome, in whom clinical exome sequencing detected a novel homozygous truncating variant in <jats:italic>LARP7<\/jats:italic>. These cases expand the phenotypic spectrum of Alazami syndrome to include toes syndactyly and adaptive behavior, and confirm the power of \u201cgenotype first\u201d approach in patients with syndromic presentations overlapping distinct rare conditions.<\/jats:p>","DOI":"10.1002\/ajmg.a.61832","type":"journal-article","created":{"date-parts":[[2020,9,5]],"date-time":"2020-09-05T11:52:27Z","timestamp":1599306747000},"page":"2722-2726","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Alazami syndrome: Phenotypic expansion and clinical resemblance to <scp>Smith\u2013Lemli\u2013Opitz<\/scp> syndrome"],"prefix":"10.1002","volume":"182","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6544-7135","authenticated-orcid":false,"given":"Simone","family":"Gana","sequence":"first","affiliation":[{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Plumari","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Rossi","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Annalisa","family":"Saracino","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie","family":"Iorio","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina Paola","family":"Zanaboni","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simona","family":"Orcesi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Department of Brain and Behavioral Sciences University of Pavia  Pavia Italy"},{"name":"Child Neurology and Psychiatry Unit IRCCS Mondino Foundation  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Enza Maria","family":"Valente","sequence":"additional","affiliation":[{"name":"Medical Genetics Unit IRCCS Mondino Foundation  Pavia Italy"},{"name":"Department of Molecular Medicine University of Pavia  Pavia Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,9,5]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22175"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1517\/21678707.2015.1014472"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/hgv.2018.14"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11033-018-4470-7"},{"key":"e_1_2_9_6_1","volume-title":"The pediatric upper extremity","author":"Garagnani L.","year":"2015"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.134"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12864-016-3093-4"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2018.07.003"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-019-0682-5"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2015.09.048"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cll.2011.08.003"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bty897"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36096"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37396"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2012.14"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature10423"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.c.31343"},{"key":"e_1_2_9_19_1","volume-title":"GeneReviews","author":"Nowaczyk M. 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