{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,22]],"date-time":"2025-08-22T04:54:46Z","timestamp":1755838486344},"reference-count":10,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2016,1,28]],"date-time":"2016-01-28T00:00:00Z","timestamp":1453939200000},"content-version":"vor","delay-in-days":27,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2016,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Ellis\u2013van Creveld (EVC) syndrome is a rare autosomal recessive disorder characterized by hypoplastic nails, polydactyly, and achondroplasia. Patients usually exhibit normal cognitive function and no remarkable developmental delay. We herein present an unusual case of EVC syndrome. A Japanese 2\u2010year\u2010old boy was born at term, but immediately developed severe respiratory failure due to thorax deformity, postaxial polydactyly and nail hypoplasia. We identified a novel pattern of germinal compound heterozygous nonsense <jats:italic>EVC2<\/jats:italic> mutations of c.1814C &gt; A (p. S605X) and c.2653C &gt; T (p. R885X), leading to the diagnosis of EVC syndrome. Interestingly, he also had severe developmental delay, and suddenly developed excessive abdominal distension at the age of 2. On surgery, extensive necrotic bowel with chronic intestinal pseudo\u2010obstruction was noted. This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of <jats:italic>EVC2<\/jats:italic> compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.<\/jats:p>","DOI":"10.1111\/ped.12846","type":"journal-article","created":{"date-parts":[[2016,1,28]],"date-time":"2016-01-28T11:22:20Z","timestamp":1453980140000},"page":"64-66","source":"Crossref","is-referenced-by-count":2,"title":["Ellis\u2013van Creveld syndrome associated with chronic intestinal pseudo\u2010obstruction"],"prefix":"10.1111","volume":"58","author":[{"given":"Hideo","family":"Iwakura","sequence":"first","affiliation":[{"name":"Department of Pediatrics Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Katsunori","family":"Fujii","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiyuki","family":"Furutani","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomozumi","family":"Takatani","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryota","family":"Ebata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toshio","family":"Nakanishi","sequence":"additional","affiliation":[{"name":"Department of Pediatric Cardiology Tokyo Women's Medical University  Tokyo Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tetsuya","family":"Mitsunaga","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takeshi","family":"Saito","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Kishimoto","sequence":"additional","affiliation":[{"name":"Department of Molecular Pathology Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideo","family":"Yoshida","sequence":"additional","affiliation":[{"name":"Department of Pediatric Surgery Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Naoki","family":"Shimojo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Chiba University Graduate School of Medicine  Chiba Japan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2016,1,28]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.15.82.65"},{"key":"e_1_2_6_3_1","first-page":"306","article-title":"Dwarfism in the Amish I. 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