{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:29:56Z","timestamp":1782358196021,"version":"3.54.5"},"reference-count":13,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,8]],"date-time":"2005-06-08T00:00:00Z","timestamp":1118188800000},"content-version":"vor","delay-in-days":5394,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1990,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A brother and a sister presented with a malformation syndrome consisting of facial anomalies, distal arthrogryposis with camp\u2010todactyly of fingers and \u201chammer toes,\u201d severe mental retardation, and hypopituitar\u2010ism. The girl is now 6\u00bd years old and exhibits severe mental retardation. She has abnormal secretion of growth hormone and responded to growth hormone therapy. Her brother was born with the same facial manifestations, distal contractures, and hypopituitarism. He died unexpectedly at age 3 months of no apparent cause. The occurrence of the syndrome in 2 sibs of different sex suggests auto\u2010somal recessive inheritance.<\/jats:p>","DOI":"10.1002\/ajmg.1320370116","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T03:51:50Z","timestamp":1118548310000},"page":"65-70","source":"Crossref","is-referenced-by-count":16,"title":["Syndrome of mental retardation, facial anomalies, hypopituitarism, and distal arthrogryposis in sibs"],"prefix":"10.1002","volume":"37","author":[{"given":"David","family":"Chitayat","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Judith G.","family":"Hall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert M.","family":"Couch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Min S.","family":"Phang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginia J.","family":"Baldwin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-25-2-209"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.16.6.483"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI107621"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80018-7"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320300404"},{"key":"e_1_2_1_7_1","first-page":"44","article-title":"Genetic aspects of arthrogryposis","volume":"194","author":"Hall JG","year":"1985","journal-title":"Clin Orthop"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320110208"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.240.277"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80524-6"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010402"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.1980.tb03718.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-33-3-561"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1210\/jcem-40-4-545"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320370116","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320370116","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T02:50:59Z","timestamp":1698029459000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320370116"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,9]]},"references-count":13,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1990,9]]}},"alternative-id":["10.1002\/ajmg.1320370116"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320370116","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,9]]}}}