title: Ellis-van Creveld syndrome associated with chronic intestinal pseudo-obstruction.
abstract: Ellis-van 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-year-old 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 EVC2 mutations of c.1814C > A (p. S605X) and c.2653C > 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-obstruction was noted. This is, to our knowledge, a most severe phenotype of EVC syndrome, illustrating that the specific pattern of EVC2 compound heterozygous mutations may cause severe developmental delay and intestinal malfunction.
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Iwakura
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Katsunori
authors.initials: K
authors.lastname: Fujii
authors.affiliation: Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Furutani
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Tomozumi
authors.initials: T
authors.lastname: Takatani
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Ryota
authors.initials: R
authors.lastname: Ebata
authors.affiliation: Department of Pediatric Cardiology, Tokyo Women's Medical University, Tokyo, Japan.
authors.forename: Toshio
authors.initials: T
authors.lastname: Nakanishi
authors.affiliation: Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Mitsunaga
authors.affiliation: Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Saito
authors.affiliation: Department of Molecular Pathology, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Takashi
authors.initials: T
authors.lastname: Kishimoto
authors.affiliation: Department of Pediatric Surgery, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Hideo
authors.initials: H
authors.lastname: Yoshida
authors.affiliation: Department of Pediatrics, Chiba University Graduate School of Medicine, Chiba, Japan.
authors.forename: Naoki
authors.initials: N
authors.lastname: Shimojo
mesh_terms: D001706:Biopsy; D002675:Child, Preschool; D002908:Chronic Disease; D004613:Ellis-Van Creveld Syndrome / Q000150:complications* / Q000235:genetics; D005820:Genetic Testing; D006801:Humans; D007418:Intestinal Pseudo-Obstruction / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D010641:Phenotype; D011860:Radiography, Abdominal; D013902:Radiography, Thoracic
keywords: EVC2; Ellis-van Creveld syndrome; heterozygous mutation; nail dysplasia; thorax deformity