{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,2]],"date-time":"2026-01-02T17:24:46Z","timestamp":1767374686503},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,2]],"date-time":"2005-06-02T00:00:00Z","timestamp":1117670400000},"content-version":"vor","delay-in-days":8219,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1982,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe three patients with bone changes and the facial characteristics of the Melnick\u2010Needles syndrome (MNS). Associated anomalies (once bilateral glaucoma, twice congenital heart defect) were the reason for referral. The MNS literature also suggests a high frequency of associated anomalies, especially cardiopulmonary malformations. The distribution of the affected relatives, consanguinity of one pair of parents, and absence of similar symptoms in parents and other relatives makes autosomal recessive inheritance of the trait in this family a definite possibility. This is of great importance in genetic counseling, particularly of sporadic cases.<\/jats:p>","DOI":"10.1002\/ajmg.1320130418","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T00:45:33Z","timestamp":1118537133000},"page":"469-477","source":"Crossref","is-referenced-by-count":49,"title":["Melnick\u2010Needles syndrome: Indication for an autosomal recessive form"],"prefix":"10.1002","volume":"13","author":[{"given":"Ben","family":"ter Haar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ben","family":"Hamel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Hendriks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"de Jager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,2]]},"reference":[{"key":"e_1_2_1_2_1","volume-title":"Skeletal Dysplasias","author":"Danks DM","year":"1974"},{"key":"e_1_2_1_2_2","unstructured":"forThe National Foundation\u2013March of Dimes BD:OAS"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1148\/128.2.351"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00973817"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1177\/028418517301400202"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.2214\/ajr.97.1.39"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1148\/123.1.154"},{"key":"e_1_2_1_8_1","first-page":"427","volume-title":"Genetic and Malformation Syndromes in Clinical Medicine","author":"Nyhan WL","year":"1976"},{"key":"e_1_2_1_9_1","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1002\/ajmg.1320130416","article-title":"Omphalocele and multiple severe congenital anomalies associated with osteodysplasty (Melnick\u2010Needles syndrome)","volume":"13","author":"Oeyen von P","journal-title":"Am J Med Genet"},{"key":"e_1_2_1_10_1","first-page":"339","article-title":"A patient with skeletal abnormalities due to dysplasia and hypoplasia of the muscular system","volume":"37","author":"Scheeper JH","year":"1967","journal-title":"Radiol Clin Biol"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0007-1226(77)90005-4"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1055\/s-0029-1230082"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320130418","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320130418","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T00:02:34Z","timestamp":1699833754000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320130418"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,12]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1982,12]]}},"alternative-id":["10.1002\/ajmg.1320130418"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320130418","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,12]]}}}