{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,11]],"date-time":"2026-07-11T12:20:16Z","timestamp":1783772416181,"version":"3.55.0"},"reference-count":20,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2006,5,11]],"date-time":"2006-05-11T00:00:00Z","timestamp":1147305600000},"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":[[2006,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 2000, Teebi reported on a 4\u2010year\u2010old boy with a distinctive pattern of malformation, which he termed the \u201cNablus mask\u2010like facial syndrome\u201d (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask\u2010like facial syndrome who both display a microdeletion in the 8q21\u20108q22 region detected by array\u2010based comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance characterized by severe blepharophimosis, tight\u2010appearing glistening facial skin, sparse and unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a strikingly similar phenotype, was previously described in a report by Salpietro et al. <jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"#bib12\">2003<\/jats:ext-link>. She has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of malformation was not identified at that time. Although high\u2010resolution chromosome and subtelomeric FISH analyses were normal, array\u2010based comparative genomic hybridization revealed an approximately 4 Mb deletion involving the 8q21.3\u20108q22.1 region in both patients. This region encompasses a number of genes that may contribute to this unique phenotype. These results demonstrate a chromosomal microdeletion as the etiology of Nablus mask\u2010like facial syndrome and emphasize the diagnostic utility of array\u2010based comparative genomic hybridization in the evaluation of multiple malformation syndromes of previously unrecognized causation. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31262","type":"journal-article","created":{"date-parts":[[2006,5,12]],"date-time":"2006-05-12T03:42:51Z","timestamp":1147405371000},"page":"1267-1273","source":"Crossref","is-referenced-by-count":32,"title":["Nablus mask\u2010like facial syndrome is caused by a microdeletion of 8q detected by array\u2010based comparative genomic hybridization"],"prefix":"10.1002","volume":"140A","author":[{"given":"Joseph T.C.","family":"Shieh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swaroop","family":"Aradhya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Novelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melanie A.","family":"Manning","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Athena M.","family":"Cherry","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Brumblay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carmelo D.","family":"Salpietro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Bernardini","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bruno","family":"Dallapiccola","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H. Eugene","family":"Hoyme","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,5,11]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1440"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200207000-00008"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31042"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/491719"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320560122"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450524"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31025"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320190110"},{"key":"e_1_2_7_10_1","first-page":"389","article-title":"A family with blepharo\u2010naso\u2010facial malformations","volume":"125","author":"Pashayan H","year":"1973","journal-title":"Am J Dis Child"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb01025.x"},{"issue":"5","key":"e_1_2_7_12_1","first-page":"413","article-title":"Del (8) (q212q2200) de novo in a boy without Langer\u2010Giedion syndrome","volume":"31","author":"Rivera H","year":"1983","journal-title":"J Genet Hum"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20280"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.gim.0000186545.83160.1e"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.017731"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320209"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278291"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20001211)95:4<407::AID-AJMG23>3.0.CO;2-1"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20010801)102:2<214::AID-AJMG1423>3.0.CO;2-K"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31015"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1407"}],"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.31262","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31262","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T23:20:43Z","timestamp":1697671243000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31262"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,5,11]]},"references-count":20,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2006,6,15]]}},"alternative-id":["10.1002\/ajmg.a.31262"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31262","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,5,11]]}}}