{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T23:24:29Z","timestamp":1790983469160,"version":"4.1.0"},"reference-count":22,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1993,6,8]],"date-time":"1993-06-08T00:00:00Z","timestamp":739497600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1994,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>We report a 7\u2010year\u2010old patient with chondrodysplasia punctata but without rhizomelia. He was born with typical clinical and radiological symptoms of this disease. He developed slowly with considerable psychomotor retardation but improved later, gaining some speech and psychosocial contacts. Joint contractures and bilateral cataracts are still major problems.<jats:italic>De novo<\/jats:italic> plasmalogen synthesis in fibroblasts was greatly reduced and DHAP\u2010AT activity was at the lower limit of controls. Peroxisomal thiolase was present in its precursor form only. Membrane fluidity (measured by TMA\u2010DPH fluorescence anisotropy) was increased in erythrocyte ghosts and in lymphocytes. Plasma phytanic acid concentration was elevated 5\u2010fold. The patient represents a mild clinical course of chondrodysplasia punctata, resembling Conradi\u2010H\u00fcnermann syndrome, but biochemically he has the typical peroxisomal dysfunction of rhizomelic chondrodysplasia punctata except for a high residual activity of DHAP\u2010AT.<\/jats:p>","DOI":"10.1007\/bf00735395","type":"journal-article","created":{"date-parts":[[2004,12,3]],"date-time":"2004-12-03T13:40:11Z","timestamp":1102081211000},"page":"60-66","source":"Crossref","is-referenced-by-count":19,"title":["Chondrodysplasia punctata with a mild clinical course"],"prefix":"10.1002","volume":"17","author":[{"given":"J. M.","family":"Nuoffer","sequence":"first","affiliation":[{"name":"Departments of Pediatrics University Hospital of Berne  Berne 3010 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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H.","family":"Schutgens","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Clinical Chemistry University Hospital  Amsterdam The Netherlands"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"U. N.","family":"Wiesmann","sequence":"additional","affiliation":[{"name":"Departments of Pediatrics University Hospital of Berne  Berne 3010 Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1993,6,8]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.68.3.415"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2275(20)38802-7"},{"issue":"2","key":"e_1_2_1_4_1","doi-asserted-by":"crossref","first-page":"358","DOI":"10.1007\/BF03335422","article-title":"Peroxisomal enzyme deficiency in X\u2010linked dominant Conradi\u2010H\u00fcnerman syndrome","volume":"12","author":"Clayton PT","year":"1989","journal-title":"J Inher Metab Dis"},{"key":"e_1_2_1_5_1","first-page":"86","article-title":"Vorzeitiges Auftreten von Knochen und eigenartigen Verkalkungen bei Chondrodystrophia foetalis hypoplastica. 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