{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,17]],"date-time":"2025-10-17T23:53:48Z","timestamp":1760745228090},"reference-count":32,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":4567,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1992,12]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 22\u2010week fetus who had died in utero had a markedly hypoplastic nose and other facial abnormalities, short fingers, hypoplastic nails, and small phallus. Radiologically there was symmetrical cartilaginous stippling of the vertebral column, femoral heads, calcanei and elbows typical of chondrodysplasia punctata (CP), and metacarpal shortness and tiny pyramidal phalanges. The several causally different forms of CP are tabulated. Differential diagnosis suggests that the present case, which does not have limb shortness, could be a case of X\u2010linked recessive brachytelephalangic chondrodysplasia punctata. \u00a9 1992 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.1320440615","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T16:38:31Z","timestamp":1118507911000},"page":"795-799","source":"Crossref","is-referenced-by-count":17,"title":["Chondrodysplasia punctata: Another possible X\u2010linked recessive case"],"prefix":"10.1002","volume":"44","author":[{"given":"C. P.","family":"Bennett","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A. Caroline","family":"Berry","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. J.","family":"Maxwell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary J.","family":"Seller","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","doi-asserted-by":"publisher","DOI":"10.1007\/BF00451470"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1988.tb02612.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320330114"},{"key":"e_1_2_1_5_1","volume-title":"Paediatric X\u2010ray Diagnosis","author":"Caffey J","year":"1978"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320240209"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198410183111603"},{"key":"e_1_2_1_8_1","first-page":"574","article-title":"A case of the Smith\u2010Lemli\u2010Optiz syndrome of multiple congenital anomalies in association with dysplasia epiphysealis punctata","volume":"92","author":"Gibson R","year":"1965","journal-title":"Canad Med Assoc J"},{"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":"10.1056\/NEJM198706183162517"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320210320"},{"key":"e_1_2_1_12_1","volume-title":"Smith's Recognizable Patterns of Human Malformation","author":"Jones KL","year":"1988"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0190-9622(89)70169-9"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1001\/archpedi.1964.02090010505010"},{"key":"e_1_2_1_15_1","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1990"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00115.x"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00284052"},{"issue":"2","key":"e_1_2_1_18_1","first-page":"144","article-title":"The Zellweger syndrome (cerebro\u2010hepato\u2010renal syndrome)","author":"Opitz JM","year":"1969","journal-title":"Birth Defects Original Art Series"},{"key":"e_1_2_1_19_1","first-page":"61","article-title":"Alkoholembryopathie mit symptomatischer chondroplasia punctata. Vierter publizierter Fall","volume":"40","author":"Paditz E","year":"1985","journal-title":"Helv Paediatr Acta"},{"key":"e_1_2_1_20_1","first-page":"566","article-title":"Association of congenital deficiency of multiple vitamin K\u2010dependent coagulation factors and the phenotype of the warfarin embryopathy: Clues to the mechanism of teratogenicity of coumarin derivatives","volume":"41","author":"Pauli RM","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(75)80986-3"},{"key":"e_1_2_1_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80378-0"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370208"},{"key":"e_1_2_1_24_1","first-page":"768","article-title":"Trisomy of chromosomes 13\u201315 and 17\u201318: Its association with infantile arteriosclerosis","volume":"244","author":"Rosenfield RL","year":"1962","journal-title":"Amer J Med Sci"},{"key":"e_1_2_1_25_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00441734"},{"key":"e_1_2_1_26_1","first-page":"360","article-title":"Chondrodysplasia punctata and maternal warfarin use in pregnancy","volume":"129","author":"Shaul WL","year":"1975","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(76)80596-3"},{"key":"e_1_2_1_28_1","first-page":"A64","article-title":"Clinical, radiological and biochemical classification of chondrodysplasia punctata","volume":"45","author":"Sheffield LJ","year":"1989","journal-title":"Amer J Hum Genet"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274739"},{"key":"e_1_2_1_30_1","first-page":"55","article-title":"Subglottic pseudotumor, laryngeal dysplasia and chondrodysplasia calcifans congenita with a t(D;B) chromosomal translocation","volume":"10","author":"Valdmanis A","year":"1967","journal-title":"Ann Genet"},{"key":"e_1_2_1_31_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00201721"},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380111"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1983.tb02218.x"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320440615","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320440615","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,24]],"date-time":"2023-10-24T13:37:28Z","timestamp":1698154648000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320440615"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,12]]},"references-count":32,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1992,12]]}},"alternative-id":["10.1002\/ajmg.1320440615"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320440615","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1992,12]]}}}