{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2024,7,28]],"date-time":"2024-07-28T23:31:32Z","timestamp":1722209492781},"reference-count":13,"publisher":"Wiley","issue":"13","license":[{"start":{"date-parts":[[2008,6,16]],"date-time":"2008-06-16T00:00:00Z","timestamp":1213574400000},"content-version":"vor","delay-in-days":18,"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":[[2008,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Nonsyndromic syndactyly is a common, heterogeneous hereditary condition of webbed fingers and toes that can be cutaneous or bony, unilateral or bilateral. We describe a patient with complex toe syndactyly and oligodactyly, some interesting skeletal hand findings and atypical facial features without other case like this described before. Cenani\u2013Lenz syndrome (CLS) is a rare disorder with total syndactyly and irregular synostosis of carpal, metacarpal and phalanges, it may involve ulna and radius and digital rays may be absent, some of these were described with atypical facial features and one patient had renal hypoplasia and vertebral anomalies but our patient does not have the oligodactyly or syndactyly of the hands that is consistently present in all patients with CLS. The atypical facial features of our patient resemble Kabuki syndrome but oligodactyly and complex syndactyly have not been described in Kabuki syndrome and this patient has normal intelligence, and extreme eyelid defect (resembling ablepharon). Therefore, for our patient, we suggested to treat in a new condition of limb anomalies and atypical face. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32377","type":"journal-article","created":{"date-parts":[[2008,5,29]],"date-time":"2008-05-29T17:50:15Z","timestamp":1212083415000},"page":"1725-1728","source":"Crossref","is-referenced-by-count":2,"title":["Complex toe syndactyly with characteristic facial phenotype: A new syndrome?"],"prefix":"10.1002","volume":"146A","author":[{"given":"Nara Lygia Macena","family":"Sobreira","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mirlene Cecilia S.P.","family":"Cernach","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Decio","family":"Brunoni","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ana Beatriz Alvarez","family":"Perez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2008,5,29]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"crossref","first-page":"460","DOI":"10.1016\/J.JHSB.2006.04.015","article-title":"A unique case of Cenani\u2010Lenz type syndactyly without flexor or intrinsic function","volume":"31","author":"Al\u2010Qattan MM","year":"2006","journal-title":"J Hand Surg"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30340"},{"key":"e_1_2_4_4_1","first-page":"359","article-title":"Total syndactylism with mesomelic shortening of the arm, radioulnar and metacarpal synostoses and disorganization of the phalanges (\u201cCenani syndactylism\u201d) (author's transl)","volume":"188","author":"Drohm D","year":"1976","journal-title":"Klin Padiatr"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.mcd.0000127466.26888.15"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320500302"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2004.10.024"},{"key":"e_1_2_4_8_1","first-page":"331","volume-title":"Syndactyly, in Congenital Deformities of the Hand and Forearm","author":"Kelikian H","year":"1974"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20555"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.30331"},{"key":"e_1_2_4_11_1","first-page":"41","article-title":"A variant of Cenani\u2013Lenz type syndactyly","volume":"11","author":"Seven M","year":"2000","journal-title":"Genet Couns"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/00019605-200304000-00001"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb01543.x"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1159\/000472392"}],"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.32377","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.32377","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T08:36:48Z","timestamp":1697618208000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.32377"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,5,29]]},"references-count":13,"journal-issue":{"issue":"13","published-print":{"date-parts":[[2008,7]]}},"alternative-id":["10.1002\/ajmg.a.32377"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.32377","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,5,29]]}}}