{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,3,29]],"date-time":"2022-03-29T02:05:03Z","timestamp":1648519503929},"reference-count":28,"publisher":"Walter de Gruyter GmbH","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,28]]},"abstract":"Abstract<\/jats:title>Background:<\/jats:title>Rhizomelic chondrodysplasia punctata (RCDP) is a rare peroxisomal disease characterised by punctate calcifications of non-ossified cartilage epiphyseal centres. The main biochemical marker of all RCDP types is a decrease in the levels of plasmalogens. Additionally, the accumulation of phytanic acid can be used as a differential marker between types of RDCP. Due to the biochemical overlap between types 1 and 5 RCDP, a genetic analysis of these genes should be performed in patients to identify the type.<\/jats:p><\/jats:sec>Case presentation:<\/jats:title>A 2-month-19-day-old male child presented with symptoms of limited movement and discomfort with movement in the extremities. His sister, who had similar clinical findings, was diagnosed with tetralogy of Fallot and died at 6 months of age. A physical examination revealed an atypical facial appearance, bilateral cataracts, sensitivity to touch in the extremities, shortness in the proximal segments of the long bones, limited movement in both knees and elbows and axial hypotonicity. Laboratory analyses revealed normal ammonia, lactate, plasma and urine amino acids, long chain fatty acids and phytanic acid levels. Rhizomelia, significant metaphyseal expansion, irregularities in the cortex, loss of ossification, fragmented appearance and punctate calcifications in both elbows, both knees and in the femoral epiphysis were seen on the skeletal survey. A homozygote p.L70W (c.209T>G) mutation was found in the<\/jats:p><\/jats:sec>Conclusions:<\/jats:title>Plasma phytanic acid levels can be normal in a patient with type 1 RCDP that develops as a result of a<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0315","type":"journal-article","created":{"date-parts":[[2017,7,25]],"date-time":"2017-07-25T10:01:12Z","timestamp":1500976872000},"source":"Crossref","is-referenced-by-count":0,"title":["Type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation"],"prefix":"10.1515","volume":"30","author":[{"given":"Nursel","family":"Murato\u011flu \u015eahin","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Meliha Esra","family":"Bilici","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erdal","family":"Kurnaz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melek","family":"Pala Akdo\u011fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Serdar","family":"Ceylaner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zehra","family":"Aycan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref121","first-page":"454526","article-title":"Whole exome sequencing reveals compound heterozygosity for ethnically distinct PEX7 mutations responsible for rhizomelic chondrodysplasia punctata, type 1","volume":"2015","year":"2015","journal-title":"Case Rep Genet"},{"key":"ref81","first-page":"9","year":"2006","journal-title":"Neurology of metabolic diseases of children"},{"key":"ref151","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10545-007-0516-z","article-title":"Molecular and clinical aspects of peroxisomal diseases","volume":"30","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref191","doi-asserted-by":"crossref","first-page":"189","DOI":"10.2223\/JPED.972","article-title":"Rhizomelic chondrodysplasia punctata \u2013 case report","volume":"79","year":"2003","journal-title":"J Pediatr"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10545-007-0516-z","article-title":"Molecular and clinical aspects of peroxisomal diseases","volume":"30","year":"2007","journal-title":"J Inherit Metab Dis"},{"key":"ref61","doi-asserted-by":"crossref","first-page":"1733","DOI":"10.1016\/j.bbamcr.2006.09.010","article-title":"Peroxisome biogenesis disorders","volume":"1763","year":"2006","journal-title":"Biochim Biophys Acta"},{"key":"ref41","first-page":"591","year":"2013","journal-title":"Inborn metabolic diseases"},{"key":"ref211","first-page":"1","year":"2013","journal-title":"Emery and Rimoin\u2019s principles and practice of medical genetics"},{"key":"ref221","first-page":"9","year":"2006","journal-title":"Neurology of metabolic diseases of children"},{"key":"ref141","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1055\/s-0036-1582140","article-title":"The BT. 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