{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T01:40:45Z","timestamp":1791855645950,"version":"4.3.4"},"reference-count":12,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2005,6,7]],"date-time":"2005-06-07T00:00:00Z","timestamp":1118102400000},"content-version":"vor","delay-in-days":4509,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1993,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In 1975 Say et al. (Humangenetik 26:267\u2013269) reported on a new dominantly inherited syndrome of cleft palate, short stature, microcephaly, large ears, and hand anomalies in 4 members of a family. This is a report of a 13\u2010month\u2010old girl with cleft palate, short stature, microcephaly, sparse scalp hair, large abnormally shaped ears, small hands with tapering fingers, delayed bone age, unusual dermatoglyphics, proximal renal tubular acidosis with cystic dysplasia of the kidneys, and developmental delay. This case appears to be the second report of this syndrome which presumably occurred as a new mutation in this family. \u00a9 1993 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320450315","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:22:10Z","timestamp":1118506930000},"page":"358-360","source":"Crossref","is-referenced-by-count":7,"title":["Syndrome of cleft palate, microcephaly, large ears, and short stature (Say syndrome)"],"prefix":"10.1002","volume":"45","author":[{"given":"Bassam","family":"Abu\u2010Libdeh","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Atsuko","family":"Fujimoto","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcia","family":"Ehinger","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,7]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"10","article-title":"Genetics and clefting","volume":"18","author":"Bixler D","year":"1981","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_3_1","first-page":"159","article-title":"Linear growth patterns in patients with cleft lip or palate or both","volume":"137","author":"Duncan PA","year":"1983","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_4_1","first-page":"775","volume-title":"Principles and Practice of Medical Genetics","author":"Emery AEH","year":"1990"},{"key":"e_1_2_1_5_1","first-page":"336","article-title":"The genetics of cleft lip and cleft palate","volume":"22","author":"Fraser FC","year":"1970","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_6_1","first-page":"693","volume-title":"Syndromes of the Head and Neck","author":"Gorlin RJ","year":"1990"},{"key":"e_1_2_1_7_1","first-page":"46","volume-title":"Contemporary Issues in Endocrinology and Metabolism, volume 4: Growth Abnormalities","author":"Hintz RL","year":"1987"},{"issue":"1","key":"e_1_2_1_8_1","first-page":"1","article-title":"The study of malformation syndromes in man","volume":"2","author":"Opitz JM","year":"1969","journal-title":"Birth Defects"},{"key":"e_1_2_1_9_1","first-page":"54","article-title":"What else to look for in a child born with a cleft of the lip and\/or palate","volume":"20","author":"Pashayan HM","year":"1983","journal-title":"Cleft Palate J"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(78)81141-X"},{"key":"e_1_2_1_11_1","doi-asserted-by":"crossref","first-page":"267","DOI":"10.1007\/BF00281464","article-title":"A new dominantly inherited syndrome of cleft palate","volume":"26","author":"Say B","year":"1975","journal-title":"Humangenetik"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb01800.x"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320200404"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320450315","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320450315","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T23:01:10Z","timestamp":1698188470000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320450315"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1993,2]]},"references-count":12,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1993,2]]}},"alternative-id":["10.1002\/ajmg.1320450315"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320450315","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1993,2]]}}}