{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,1]],"date-time":"2025-10-01T16:13:12Z","timestamp":1759335192382},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7458,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Two major types of chondrodysplasia punctata have been delineated; a severe, recessively inherited, rhizomelic form and the less severe, dominantly inherited Conradi\u2010H\u00fcnerman form. Clinico\u2010genetic analysis of this latter form of CP uncovered a sub\u2010group characterised by asymmetric involvement with linear or whorled skin patches of ichthyosiform erythroderma or atrophoderma, circumscribed cicatricial alopecia, asymmetrical cataracts and limb shortness. The mosaic pattern of the manifestations and the limitation of reported cases to females suggested an X\u2010linked dominant gene which undergoes Lyonisation in the female and is lethal in the hemizygous male. We report on a family ascertained through a baby girl who had manifestations typical of the X\u2010linked dominant form of CP and whose mother, 2 of 3 maternal aunts, and maternal grandmother all had less severe manifestations. The absence of male offspring for 3 generations and a history of 3 early miscarriages, along with the clinical variability in the affected females, provide further support for X\u2010linked dominant inheritance of this disorder.<\/jats:p>","DOI":"10.1002\/ajmg.1320200117","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T19:56:26Z","timestamp":1118519786000},"page":"137-144","source":"Crossref","is-referenced-by-count":18,"title":["X\u2010linked dominant chondrodysplasia punctata: A case report and family studies"],"prefix":"10.1002","volume":"20","author":[{"given":"R. F.","family":"Mueller","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P. M.","family":"Crowle","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R. A. K.","family":"Jones","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B. C. C.","family":"Davison","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James F.","family":"Reynolds","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":"10.1001\/archpedi.1975.02120400056013"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1972.tb01453.x"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/jid.1949.95"},{"key":"e_1_2_1_5_1","first-page":"676","article-title":"Chondrodysplasia punctata Typ Conradi\u2010H\u00fcnerman","volume":"54","author":"Goerttler E","year":"1979","journal-title":"Zeit Hautkr"},{"issue":"2","key":"e_1_2_1_6_1","first-page":"260","article-title":"Dermatologische Leitsymptome einer Sonderform der Chondrodysplasia punctata","volume":"28","author":"Happle R","year":"1977","journal-title":"Hautarzt"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1977.tb01281.x"},{"key":"e_1_2_1_8_1","first-page":"357","article-title":"Genetische Interpretation streifenf\u00f6rmiger Hautanomalien","volume":"29","author":"Happle R","year":"1978","journal-title":"Hautarzt"},{"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":"10.1111\/j.1399-0004.1979.tb00973.x"},{"key":"e_1_2_1_11_1","first-page":"590","article-title":"X\u2010gekoppelt dominante Chondrodysplasia Punctata\u2010ein osteokutanes Syndrom","volume":"30","author":"Happle R","year":"1979","journal-title":"Hautarzt"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-662-38563-0_48"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1981.tb00669.x"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00115.x"},{"key":"e_1_2_1_15_1","first-page":"244","article-title":"Chondrodysplasia punctata, dominant type with peripheral cataracts","volume":"13","author":"Norum RA","year":"1977","journal-title":"Birth Defects OAS"},{"key":"e_1_2_1_16_1","first-page":"209","article-title":"Addendum to Spranger JW, Opitz JM, Bidder U. Hererogeneity of chondrodyssplasia punctata","volume":"11","author":"Scott C","year":"1971","journal-title":"Hum Gen"},{"key":"e_1_2_1_17_1","first-page":"360","article-title":"Chondrodysplasia punctata and maternal warfarin use during pregnancy","volume":"129","author":"Shaul WL","year":"1975","journal-title":"Am J Dis Child"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00274739"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320200117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320200117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,21]],"date-time":"2023-10-21T12:46:01Z","timestamp":1697892361000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320200117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,1]]},"references-count":17,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1985,1]]}},"alternative-id":["10.1002\/ajmg.1320200117"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320200117","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,1]]}}}