{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T02:35:09Z","timestamp":1777343709861,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2010,11,2]],"date-time":"2010-11-02T00:00:00Z","timestamp":1288656000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2010,12]]},"abstract":"<jats:p>Zhang Y, Dai Y, Liu Y, Ren J. Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?<\/jats:p><jats:p>The acrofacial dysostoses (AFDs) are a heterogeneous group of disorders involving craniofacial dysostosis and limb anomalies. Depending on the type of limb defects, two major groups have been defined: Nager syndrome with predominant preaxial anomalies and Miller syndrome with postaxial malformations. Genomic copy number variation, a common type of genomic variability, can influence gene expression by disrupting coding sequences, perturbing long\u2010range gene regulation, or altering gene dosage, and these effects could contribute to phenotypic variations or disease risk. We present a distinct AFD case with mandibulofacial dysostosis, microtia and limb malformations but without limb defects, which may represent a new form of AFD. To investigate the etiology of the phenotype, whole genomic high\u2010resolution array comparative genomic hybridization analysis was carried out, revealing two cryptic duplications, 1p36.33 and 1q21.3\u2010q22 duplications. Two genes, <jats:italic>VWA1<\/jats:italic> and <jats:italic>PYGO2<\/jats:italic>, contained in the two duplications, respectively, are likely to be the candidate genes for the phenotype of our patient.<\/jats:p>","DOI":"10.1111\/j.1399-0004.2010.01427.x","type":"journal-article","created":{"date-parts":[[2010,4,19]],"date-time":"2010-04-19T16:05:04Z","timestamp":1271693104000},"page":"570-574","source":"Crossref","is-referenced-by-count":14,"title":["Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome?"],"prefix":"10.1111","volume":"78","author":[{"given":"Y","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Dai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2010,11,2]]},"reference":[{"key":"e_1_2_7_2_2","first-page":"289","article-title":"Une observation familiale du syndrome ectodactylie et dysostose mandibulo\u2010faciale","volume":"22","author":"Fontaine G","year":"1974","journal-title":"J Genet Hum"},{"key":"e_1_2_7_3_2","first-page":"51","article-title":"Study of a child with an \u201cidiopathic\u201d malformation\/mental retardation syndrome","volume":"11","author":"Pilotto RF","year":"1975","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_4_2","first-page":"45","article-title":"Acrofacial dysostosis with growth and mental retardation in three males, one with simultaneous Hermansky\u2010Pudlak syndrome","volume":"13","author":"Kelly TE","year":"1977","journal-title":"Birth Defects Orig Artic Ser"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320350408"},{"key":"e_1_2_7_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature05329"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMcibr067658"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng2046"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.1101160"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2007.12.009"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.02.008"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0014-5793(02)02579-6"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M513746200"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.matbio.2008.01.005"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1242\/dev.129.17.4089"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1002\/dvdy.22072"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fj.1399-0004.2010.01427.x","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/j.1399-0004.2010.01427.x","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,31]],"date-time":"2023-10-31T02:50:45Z","timestamp":1698720645000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/j.1399-0004.2010.01427.x"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,11,2]]},"references-count":15,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2010,12]]}},"alternative-id":["10.1111\/j.1399-0004.2010.01427.x"],"URL":"https:\/\/doi.org\/10.1111\/j.1399-0004.2010.01427.x","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2010,11,2]]}}}