{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T06:07:13Z","timestamp":1761718033577},"reference-count":10,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T00:00:00Z","timestamp":1179187200000},"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":[[2007,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down\u2010slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog\u2013Scott and in Teebi hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X\u2010linked inheritance, although an autosomal dominant mode of transmission cannot be excluded. \u00a9 2007 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31780","type":"journal-article","created":{"date-parts":[[2007,5,15]],"date-time":"2007-05-15T20:58:23Z","timestamp":1179262703000},"page":"1282-1286","source":"Crossref","is-referenced-by-count":4,"title":["A newly recognized craniosynostosis syndrome with features of Aarskog\u2013Scott and Teebi syndromes"],"prefix":"10.1002","volume":"143A","author":[{"given":"Jodi D.","family":"Hoffman","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mira","family":"Irons","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Charles E.","family":"Schwartz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Livija","family":"Medne","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elaine H.","family":"Zackai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2007,5,15]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(70)80247-5"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170307"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1034\/j.1399-0004.2002.610209.x"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201081"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30700"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(94)90552-5"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200553"},{"key":"e_1_2_5_9_1","first-page":"240","volume-title":"Unusual facies, joint hypermobility, genital anomaly and short stature. A new dysmorphic syndrome. The Clinical Delineation of Birth Defects","author":"Scott CI","year":"1971"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31033"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320280306"}],"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.31780","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31780","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,11]],"date-time":"2023-10-11T07:25:19Z","timestamp":1697009119000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31780"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,5,15]]},"references-count":10,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2007,6,15]]}},"alternative-id":["10.1002\/ajmg.a.31780"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31780","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,5,15]]}}}