{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:20:09Z","timestamp":1780471209181,"version":"3.54.1"},"reference-count":13,"publisher":"American Academy of Pediatrics (AAP)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2007,8,1]]},"abstract":"<jats:p>Classic rhizomelic chondrodysplasia punctata is a rare, autosomal, recessively inherited disorder that is characterized by proximal shortening of the limbs, punctuate calcifications of the epiphyses, cataracts, developmental delay, and early lethality. A distinctive biochemical profile is characteristic for each of the several defects of peroxisomal metabolism. Recently, cases have been described that were not associated with peroxisomal dysfunction. These cases were found to be secondary to teratogen exposure or maternal conditions. Since 1993, there have been 9 reported cases of neonates with rhizomelic chondrodysplasia punctata who were born to mothers with connective tissue disease. We followed a newborn boy with features suggestive of rhizomelic chondrodysplasia punctata whose biochemical studies failed to demonstrate a defect in either plasmalogen or cholesterol biosynthesis. His mother developed systemic lupus erythematosus 8 months after delivery. This case is compared with the previously reported 9 cases from the literature and is instructive in demonstrating a lesser known effect of maternal autoantibodies on the fetus.<\/jats:p>","DOI":"10.1542\/peds.2006-2997","type":"journal-article","created":{"date-parts":[[2007,8,1]],"date-time":"2007-08-01T17:53:25Z","timestamp":1185990805000},"page":"e436-e441","source":"Crossref","is-referenced-by-count":37,"title":["Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature"],"prefix":"10.1542","volume":"120","author":[{"given":"Alan L.","family":"Shanske","sequence":"first","affiliation":[{"name":"Center for Craniofacial Disorders"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Larry","family":"Bernstein","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ronit","family":"Herzog","sequence":"additional","affiliation":[{"name":"Division of Allergy and Immunology, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"417","published-online":{"date-parts":[[2007,8,1]]},"reference":[{"key":"2021120901532307400_R1","unstructured":"Moser A, Moser H, Kreiter N, Raymond G. Life expectancy in rhizomelic chondrodysplasia punctata. Am J Hum Genet.\u20081996;59(suppl 4):99"},{"key":"2021120901532307400_R2","doi-asserted-by":"crossref","unstructured":"Bjorkhem I, Sisfontes L, Bostrom B, Kase BF, Blomstrand R. Simple diagnosis of the Zellweger syndrome by gas-liquid chromatography of dimethylacetals. J Lipid Res.\u20081986;27:786\u2013791","DOI":"10.1016\/S0022-2275(20)38802-7"},{"key":"2021120901532307400_R3","doi-asserted-by":"crossref","unstructured":"Moser AB, Jones DS, Raymond GV, Moser HW. Plasma and red blood cell fatty acids in peroxisomal disorders. Neurochem Res.\u20081999;24:187\u2013197","DOI":"10.1023\/A:1022549618333"},{"key":"2021120901532307400_R4","doi-asserted-by":"crossref","unstructured":"Moser AB, Kreaiter N, Bezman L, et al. Plasma very long chain fatty acids in 3,000 peroxisomal disease patients and 29,000 controls. Ann Neurol.\u20081989;45:100\u2013110","DOI":"10.1002\/1531-8249(199901)45:1<100::AID-ART16>3.0.CO;2-U"},{"key":"2021120901532307400_R5","doi-asserted-by":"crossref","unstructured":"Kelley RI. Diagnosis of Smith-Lemli-Opitz syndrome by gas chromatography\/mass spectrometry of 7-dehydrocholesterol in plasma, amniotic fluid and cultures skin fibroblasts. Clin Chim Acta.\u20081995;236:45\u201358","DOI":"10.1016\/0009-8981(95)06038-4"},{"key":"2021120901532307400_R6","unstructured":"Costa T, Tiller G, Chitayat D, Silverman E. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two infants: coincidence or association? Presented at: first meeting of the Bone Dysplasia Society; June 17\u201319, 1993; Chicago, IL"},{"key":"2021120901532307400_R7","doi-asserted-by":"crossref","unstructured":"Mansour S, Liberman D, Young I. Brachytelephalangic chondrodysplasia punctata in an extremely premature infant. Am J Med Genet.\u20081994;53:81\u201382","DOI":"10.1002\/ajmg.1320530117"},{"key":"2021120901532307400_R8","doi-asserted-by":"crossref","unstructured":"Kelly TE, Alford BA, Greer KM. Chondrodysplasia punctata stemming from maternal lupus erythematosus. Am J Med Genet.\u20081999;83:397\u2013401","DOI":"10.1002\/(SICI)1096-8628(19990423)83:5<397::AID-AJMG11>3.0.CO;2-Y"},{"key":"2021120901532307400_R9","doi-asserted-by":"crossref","unstructured":"Suzuki H, Silverman ED, Wu X, et al. Effect of maternal autoantibodies on fetal cardiac conduction: an experimental murine model. Pediatr Res.\u20082005;57:557\u2013562","DOI":"10.1203\/01.PDR.0000155947.82365.E4"},{"key":"2021120901532307400_R10","doi-asserted-by":"crossref","unstructured":"Elcioglu N, Hall CM. Maternal systemic lupus erythematosus and chondrodysplasia punctata in two sibs: phenocopy or coincidence?J Med Genet.\u20081998;35:690\u2013694","DOI":"10.1136\/jmg.35.8.690"},{"key":"2021120901532307400_R11","doi-asserted-by":"crossref","unstructured":"Toriello HV. Chondrodysplasia punctata and maternal systemic lupus erythematosus. J Med Genet.\u20081998;35:698\u2013689","DOI":"10.1136\/jmg.35.8.698"},{"key":"2021120901532307400_R12","doi-asserted-by":"crossref","unstructured":"Austin-Ward E, Castillo S, Cuchacovich M, et al. Neonatal lupus syndrome: a case with chondrodysplasia punctata and other unusual manifestations. J Med Genet.\u20081998;35:695\u2013697","DOI":"10.1136\/jmg.35.8.695"},{"key":"2021120901532307400_R13","doi-asserted-by":"crossref","unstructured":"Kozlowski K, Basel D, Beighton P. Chondrodysplasia punctata in siblings and maternal lupus erythematosus. Clin Genet.\u20082004;66:545\u2013549","DOI":"10.1111\/j.1399-0004.2004.00364.x"}],"container-title":["Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/120\/2\/e436\/1119289\/zpe0080700e436.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/publications.aap.org\/pediatrics\/article-pdf\/120\/2\/e436\/1119289\/zpe0080700e436.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,12,9]],"date-time":"2021-12-09T07:58:20Z","timestamp":1639036700000},"score":1,"resource":{"primary":{"URL":"https:\/\/publications.aap.org\/pediatrics\/article\/120\/2\/e436\/70421\/Chondrodysplasia-Punctata-and-Maternal-Autoimmune"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2007,8,1]]},"references-count":13,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2007,8,1]]},"published-print":{"date-parts":[[2007,8,1]]}},"URL":"https:\/\/doi.org\/10.1542\/peds.2006-2997","relation":{},"ISSN":["0031-4005","1098-4275"],"issn-type":[{"value":"0031-4005","type":"print"},{"value":"1098-4275","type":"electronic"}],"subject":[],"published":{"date-parts":[[2007,8,1]]}}}