{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T15:46:15Z","timestamp":1759333575888},"reference-count":6,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7489,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1984,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A kinship is described in which nine individuals in four generations were affected with the Ruvalcaba syndrome including postnatal growth retardation, an oval face with a high forehead, antimongoloid slant of palpebral fissures, small beaked nose with hypoplastic nasal alae, small downturned mouth with thin vermilion borders, pointed chin, and short fingers and toes. Less frequently seen were osteochondritis of the lumbar vertebral bodies, cone\u2010shaped epiphyses of the phalanges, and narrow diaphyses of the metacarpals and metatarsals. None of the affected individuals was mentally retarded. The propositus, a 3\u2010year\u2010old boy, and his mother were typically affected, while his 8\u2010month\u2010old sister, the 55\u2010year\u2010old maternal grandfather, and his 46\u2010year\u2010old younger sister had several of these manifestations. Information on the remaining four affected relatives was incomplete. The syndrome was transmitted in a dominant fashion with variable expressivity. There were two instances of male\u2010to\u2010male transmission. This effectively ruled out X\u2010linked inheritance. The transmission of the syndrome in three other reported pedigrees was also compatible with autosomal dominant inheritance with variable expressivity and incomplete penetrance.<\/jats:p>","DOI":"10.1002\/ajmg.1320190414","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:24:33Z","timestamp":1118496273000},"page":"741-753","source":"Crossref","is-referenced-by-count":25,"title":["Ruvalcaba syndrome: Autosomal dominant inheritance"],"prefix":"10.1002","volume":"19","author":[{"given":"Yoshitsugu","family":"Sugio","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tadashi","family":"Kajii","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","first-page":"249","article-title":"Autosomal\u2010dominant transmission of the tricho\u2010rhino\u2010phalangeal syndrome. Report of 4 unrelated families, review of 60 cases","volume":"28","author":"Giedion A","year":"1973","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_3_1","first-page":"500","article-title":"Uber ein \u201cneus Syndrom\u201d in Verbindung mit famili\u00e4rer Translokation 13\/14","volume":"190","author":"Geormaneanu M","year":"1978","journal-title":"Klin P\u00e4diatr"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.14.6.430"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(71)80155-5"},{"key":"e_1_2_1_6_1","volume-title":"Bone Age. X\u2010Ray Diagnosis of Bone Maturation","author":"Sugiura Y","year":"1979"},{"key":"e_1_2_1_7_1","volume-title":"Developmental Screening Tests For Infants and Children","author":"Tsumori M","year":"1981"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320190414","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320190414","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T00:35:15Z","timestamp":1697762115000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320190414"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1984,12]]},"references-count":6,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1984,12]]}},"alternative-id":["10.1002\/ajmg.1320190414"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320190414","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1984,12]]}}}