{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T12:10:00Z","timestamp":1792152600306,"version":"4.4.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":4922,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,12,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a girl with symmetrical rhizomelic shortness of the upper limbs and punctate epiphyseal calcifications noted at birth. Presumably she has normal height, but short nose, short hands, and normal mentation; and on roentgenograms short and wide humeri, symmetrical brachymetacarpy, especially of the 4th metacarpals, and hypoplastic distal phalanges, sagittal clefting of vertebral bodies, and punctate calcifications at various areas including the entire spine, sacrum, hands, feet, trachea, and thyroid cartilage. It is an apparently new syndrome of chondrodysplasia punctata (CP), quite distinct from the classic from (Conradi\u2010H\u00fcnerman type), as well as the other well\u2010defined forms of CP. We thus suggest the term chondrodysplasia punctata, humero\u2010metacarpal (HM) type.<\/jats:p>","DOI":"10.1002\/ajmg.1320410406","type":"journal-article","created":{"date-parts":[[2005,6,12]],"date-time":"2005-06-12T04:31:54Z","timestamp":1118550714000},"page":"417-422","source":"Crossref","is-referenced-by-count":14,"title":["Generalized chondrodysplasia punctata with shortness of humeri and brachymetacarpy: Humero\u2010metacarpal (HM) type: Variation or heterogeneity?"],"prefix":"10.1002","volume":"41","author":[{"given":"Zvi","family":"Borochowitz","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80447-X"},{"key":"e_1_2_1_3_1","first-page":"244","article-title":"Punctate epiphyses disease associated with alcoholic foetopathy: First three reported cases","volume":"26","author":"Badois C","year":"1983","journal-title":"Ann Radiol"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442333"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02389019"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410183111603"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442639"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320130205"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00289453"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442399"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00366763"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284052"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320321"},{"key":"e_1_2_1_14_1","first-page":"566","article-title":"Association of congenital deficiencies of multiple vitamin K\u2010dependent coagultion factors and the phenotype of warfarin embryopathy: Clues to the mechanisms of teratogenicity of cumarin derivatives","volume":"41","author":"Pauli RM","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370208"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80596-3"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274739"},{"key":"e_1_2_1_18_1","first-page":"62","article-title":"Calcareous chondropathies in the newborn infant","volume":"57","author":"Yakovac WC","year":"1954","journal-title":"Arch Pathol"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320410406","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320410406","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:28:27Z","timestamp":1698064107000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320410406"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,12,15]]},"references-count":17,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,12,15]]}},"alternative-id":["10.1002\/ajmg.1320410406"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320410406","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,12,15]]}}}