Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature
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 characteri...
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Veröffentlicht in: | Pediatrics (Evanston) 2007-08, Vol.120 (2), p.e436-e441 |
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description | 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. |
doi_str_mv | 10.1542/peds.2006-2997 |
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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.</description><identifier>ISSN: 0031-4005</identifier><identifier>EISSN: 1098-4275</identifier><identifier>DOI: 10.1542/peds.2006-2997</identifier><identifier>PMID: 17671048</identifier><identifier>CODEN: PEDIAU</identifier><language>eng</language><publisher>United States: Am Acad Pediatrics</publisher><subject>Adult ; Autoimmune diseases ; Chondrodysplasia Punctata, Rhizomelic - diagnosis ; Chondrodysplasia Punctata, Rhizomelic - genetics ; Chondrodysplasia Punctata, Rhizomelic - immunology ; Diagnosis, Differential ; Female ; Genetic disorders ; Humans ; Infant, Newborn ; Lupus Erythematosus, Systemic - complications ; Lupus Erythematosus, Systemic - diagnosis ; Lupus Erythematosus, Systemic - immunology ; Male ; Middle Aged ; Pediatrics ; Pregnancy ; Prenatal Exposure Delayed Effects - diagnosis ; Prenatal Exposure Delayed Effects - etiology ; Prenatal Exposure Delayed Effects - immunology</subject><ispartof>Pediatrics (Evanston), 2007-08, Vol.120 (2), p.e436-e441</ispartof><rights>Copyright American Academy of Pediatrics Aug 2007</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c457t-bae3a180b4aabf67490bad6d5a261a38bb6727735af21b237e439753cb6cbf833</citedby><cites>FETCH-LOGICAL-c457t-bae3a180b4aabf67490bad6d5a261a38bb6727735af21b237e439753cb6cbf833</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27922,27923</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/17671048$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Shanske, Alan L</creatorcontrib><creatorcontrib>Bernstein, Larry</creatorcontrib><creatorcontrib>Herzog, Ronit</creatorcontrib><title>Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature</title><title>Pediatrics (Evanston)</title><addtitle>Pediatrics</addtitle><description>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.</description><subject>Adult</subject><subject>Autoimmune diseases</subject><subject>Chondrodysplasia Punctata, Rhizomelic - diagnosis</subject><subject>Chondrodysplasia Punctata, Rhizomelic - genetics</subject><subject>Chondrodysplasia Punctata, Rhizomelic - immunology</subject><subject>Diagnosis, Differential</subject><subject>Female</subject><subject>Genetic disorders</subject><subject>Humans</subject><subject>Infant, Newborn</subject><subject>Lupus Erythematosus, Systemic - complications</subject><subject>Lupus Erythematosus, Systemic - diagnosis</subject><subject>Lupus Erythematosus, Systemic - immunology</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Pediatrics</subject><subject>Pregnancy</subject><subject>Prenatal Exposure Delayed Effects - diagnosis</subject><subject>Prenatal Exposure Delayed Effects - etiology</subject><subject>Prenatal Exposure Delayed Effects - immunology</subject><issn>0031-4005</issn><issn>1098-4275</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2007</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNpdkE1v1DAQhi1ERbeFK0dkceCW7fgrTrittlCQtoAQnK1x4rCu8rHYDlX_PQ67ElVPMyM982rmIeQ1gzVTkl8dXBvXHKAseF3rZ2TFoK4KybV6TlYAghUSQJ2TixjvAEAqzV-Qc6ZLzUBWK2K3-2lsw9Q-xEOP0SP9No9NwoQUx5beYnJhxJ5u5jT5YZhHR699dBjde7qhX9w93eb-H_vd_fF5njqa9o7ufN7ENAf3kpx12Ef36lQvyc-PH35sPxW7rzeft5td0eSrUmHRCWQVWIlou1LLGiy2ZauQlwxFZW2pudZCYceZ5UI7KWqtRGPLxnaVEJfk3TH3EKbfs4vJDD42ru9xdNMcDQfFmdJVBt8-Ae-mefkyM7wSWjIGGVofoSZMMQbXmUPwA4YHw8As6s2i3izqzaI-L7w5pc52cO1__OQ6A1dHYO9_7e99cEuCxxR8Ex-1jIPhJj9Xir8g15Ax</recordid><startdate>20070801</startdate><enddate>20070801</enddate><creator>Shanske, Alan L</creator><creator>Bernstein, Larry</creator><creator>Herzog, Ronit</creator><general>Am Acad Pediatrics</general><general>American Academy of Pediatrics</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7TS</scope><scope>7U9</scope><scope>H94</scope><scope>K9.</scope><scope>M7N</scope><scope>NAPCQ</scope><scope>U9A</scope><scope>7QP</scope><scope>7T5</scope></search><sort><creationdate>20070801</creationdate><title>Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature</title><author>Shanske, Alan L ; Bernstein, Larry ; Herzog, Ronit</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c457t-bae3a180b4aabf67490bad6d5a261a38bb6727735af21b237e439753cb6cbf833</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2007</creationdate><topic>Adult</topic><topic>Autoimmune diseases</topic><topic>Chondrodysplasia Punctata, Rhizomelic - diagnosis</topic><topic>Chondrodysplasia Punctata, Rhizomelic - genetics</topic><topic>Chondrodysplasia Punctata, Rhizomelic - immunology</topic><topic>Diagnosis, Differential</topic><topic>Female</topic><topic>Genetic disorders</topic><topic>Humans</topic><topic>Infant, Newborn</topic><topic>Lupus Erythematosus, Systemic - complications</topic><topic>Lupus Erythematosus, Systemic - diagnosis</topic><topic>Lupus Erythematosus, Systemic - immunology</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Pediatrics</topic><topic>Pregnancy</topic><topic>Prenatal Exposure Delayed Effects - diagnosis</topic><topic>Prenatal Exposure Delayed Effects - etiology</topic><topic>Prenatal Exposure Delayed Effects - immunology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Shanske, Alan L</creatorcontrib><creatorcontrib>Bernstein, Larry</creatorcontrib><creatorcontrib>Herzog, Ronit</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Physical Education Index</collection><collection>Virology and AIDS Abstracts</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Nursing & Allied Health Premium</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Immunology Abstracts</collection><jtitle>Pediatrics (Evanston)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Shanske, Alan L</au><au>Bernstein, Larry</au><au>Herzog, Ronit</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature</atitle><jtitle>Pediatrics (Evanston)</jtitle><addtitle>Pediatrics</addtitle><date>2007-08-01</date><risdate>2007</risdate><volume>120</volume><issue>2</issue><spage>e436</spage><epage>e441</epage><pages>e436-e441</pages><issn>0031-4005</issn><eissn>1098-4275</eissn><coden>PEDIAU</coden><abstract>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.</abstract><cop>United States</cop><pub>Am Acad Pediatrics</pub><pmid>17671048</pmid><doi>10.1542/peds.2006-2997</doi></addata></record> |
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subjects | Adult Autoimmune diseases Chondrodysplasia Punctata, Rhizomelic - diagnosis Chondrodysplasia Punctata, Rhizomelic - genetics Chondrodysplasia Punctata, Rhizomelic - immunology Diagnosis, Differential Female Genetic disorders Humans Infant, Newborn Lupus Erythematosus, Systemic - complications Lupus Erythematosus, Systemic - diagnosis Lupus Erythematosus, Systemic - immunology Male Middle Aged Pediatrics Pregnancy Prenatal Exposure Delayed Effects - diagnosis Prenatal Exposure Delayed Effects - etiology Prenatal Exposure Delayed Effects - immunology |
title | Chondrodysplasia Punctata and Maternal Autoimmune Disease: A New Case and Review of the Literature |
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