{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,26]],"date-time":"2025-11-26T15:43:44Z","timestamp":1764171824896},"reference-count":13,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":5451,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Here we report on a 2 year 3\u2010month\u2010old boy with acrocephalosyndactyly, a bilateral parietooccipital \u201cencephalocele\u201d, micropenis, and severe mental retardation. To our knowledge there are no other reports of similarly affected patients in the literature.<\/jats:p>","DOI":"10.1002\/ajmg.1320360302","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:48:30Z","timestamp":1118537310000},"page":"265-268","source":"Crossref","is-referenced-by-count":15,"title":["An unusual type of acrocephalosyndactyly with bilateral parietooccipital \u201cencephalocele\u201d, micropenis, and severe mental retardation"],"prefix":"10.1002","volume":"36","author":[{"given":"Peter","family":"Lorenz","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edgar","family":"Rupprecht","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Harald","family":"Tellkamp","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200124"},{"key":"e_1_2_1_3_1","volume-title":"Craniosynostosis: Diagnosis, Evaluation and Management","author":"Cohen MM","year":"1986"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320310514"},{"key":"e_1_2_1_5_1","series-title":"Original Article Series","first-page":"39","volume-title":"An Unusual Form of Acrocephalosyndactyly","author":"Herrmann J","year":"1969"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320140320"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)81050-5"},{"key":"e_1_2_1_8_1","series-title":"Original Article Series","first-page":"190","volume-title":"The Saethre\u2010Chotzen Syndrome","author":"Pantke OA","year":"1975"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00447500"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01673869"},{"key":"e_1_2_1_11_1","series-title":"Original Article Series","first-page":"35","volume-title":"Recessive Acrocephalosyndactyly With Normal Intelligence","author":"Summitt RL","year":"1969"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.5.369"},{"key":"e_1_2_1_13_1","first-page":"29","article-title":"Eine merkwuerdige Kombination von angeborenen Missbildungen: doppelseitiger Hydrophthalmus verbunden mit Akrozephalosyndaktylie, Herzfehler, Pseudohermaphroditismus und anderen Abweichungen","volume":"92","author":"Waardenburg PJ","year":"1934","journal-title":"Klin Monatsbl Augenheilk"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210422"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320360302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320360302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T04:30:23Z","timestamp":1698035423000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320360302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1002\/ajmg.1320360302"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320360302","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}