{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,11]],"date-time":"2025-11-11T13:16:21Z","timestamp":1762866981320,"version":"3.37.3"},"reference-count":10,"publisher":"Wiley","license":[{"start":{"date-parts":[[2016,1,1]],"date-time":"2016-01-01T00:00:00Z","timestamp":1451606400000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Pediatrics"],"published-print":{"date-parts":[[2016]]},"abstract":"<jats:p>Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases related to dysfunction of peroxisomes. Dysmorphic features, neurological abnormalities, and hepatic dysfunction can be presenting signs of peroxisomal disorders. Here we presented dysmorphic facial features and other clinical characteristics in two patients with<jats:italic> PEX1<\/jats:italic> gene mutation. Follow-up periods were 3.5 years and 1 year in the patients. Case <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\"><mml:mrow><mml:mi mathvariant=\"normal\">I<\/mml:mi><\/mml:mrow><\/mml:math> was one-year-old girl that presented with neurodevelopmental delay, hepatomegaly, bilateral hearing loss, and visual problems. Ophthalmologic examination suggested septooptic dysplasia. Cranial magnetic resonance imaging (MRI) showed nonspecific gliosis at subcortical and periventricular deep white matter. Case <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M2\"><mml:mi mathvariant=\"normal\">I<\/mml:mi><mml:mi mathvariant=\"normal\">I<\/mml:mi><\/mml:math> was 2.5-year-old girl referred for investigation of global developmental delay and elevated liver enzymes. Ophthalmologic examination findings were consistent with bilateral nystagmus and retinitis pigmentosa. Cranial MRI was normal. Dysmorphic facial features including broad nasal root, low set ears, downward slanting eyes, downward slanting eyebrows, and epichantal folds were common findings in two patients. Molecular genetic analysis indicated homozygous novel IVS1-2A&gt;G mutation in Case <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M3\"><mml:mrow><mml:mi mathvariant=\"normal\">I<\/mml:mi><\/mml:mrow><\/mml:math> and homozygous p.G843D (c.2528G&gt;A) mutation in Case <mml:math xmlns:mml=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M4\"><mml:mi mathvariant=\"normal\">I<\/mml:mi><mml:mi mathvariant=\"normal\">I<\/mml:mi><\/mml:math> in the<jats:italic> PEX1<\/jats:italic> gene. Clinical findings and developmental prognosis vary in<jats:italic> PEX1<\/jats:italic> gene mutation. Kabuki-like phenotype associated with liver pathology may indicate Zellweger spectrum disorders (ZSD).<\/jats:p>","DOI":"10.1155\/2016\/5175709","type":"journal-article","created":{"date-parts":[[2016,11,2]],"date-time":"2016-11-02T17:01:17Z","timestamp":1478106077000},"page":"1-5","source":"Crossref","is-referenced-by-count":3,"title":["Dysmorphic Facial Features and Other Clinical Characteristics in Two Patients with<i> PEX1<\/i> Gene Mutations"],"prefix":"10.1155","volume":"2016","author":[{"given":"Mehmet","family":"Gunduz","sequence":"first","affiliation":[{"name":"Division of Metabolism and Nutrition, Ankara Children\u2019s Hematology-Oncology Research and Training Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7937-7721","authenticated-orcid":true,"given":"Ozlem","family":"Unal","sequence":"additional","affiliation":[{"name":"Division of Metabolism and Nutrition, Ankara Children\u2019s Hematology-Oncology Research and Training Hospital, Ankara, Turkey"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"volume-title":"Peroxisomal disorders","year":"2011","key":"6"},{"volume":"39, article 35","year":"2016","journal-title":"Journal of Inherited Metabolic Disease","key":"5"},{"doi-asserted-by":"publisher","key":"11","DOI":"10.1016\/j.bbamcr.2015.11.015"},{"volume-title":"Peroxisome biogenesis disorders, zellweger syndrome spectrum","year":"2003","key":"10"},{"issue":"4","key":"8","first-page":"333","volume":"126","year":"2004","journal-title":"American Journal of Medical Genetics"},{"doi-asserted-by":"publisher","key":"2","DOI":"10.1016\/j.bbamcr.2015.12.005"},{"volume-title":"The peroxisome biogenesis disorders","year":"2001","first-page":"3181","key":"4"},{"doi-asserted-by":"publisher","key":"1","DOI":"10.1016\/j.ymgme.2015.12.009"},{"doi-asserted-by":"publisher","key":"7","DOI":"10.1016\/j.bbadis.2012.03.011"},{"issue":"2","key":"3","first-page":"217","volume":"22","year":"2011","journal-title":"Genetic Counseling"}],"container-title":["Case Reports in Pediatrics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/5175709.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/5175709.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/cripe\/2016\/5175709.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2016,11,2]],"date-time":"2016-11-02T17:01:17Z","timestamp":1478106077000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/cripe\/2016\/5175709\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2016]]},"references-count":10,"alternative-id":["5175709","5175709"],"URL":"https:\/\/doi.org\/10.1155\/2016\/5175709","relation":{},"ISSN":["2090-6803","2090-6811"],"issn-type":[{"type":"print","value":"2090-6803"},{"type":"electronic","value":"2090-6811"}],"subject":[],"published":{"date-parts":[[2016]]}}}