title: Ellis-van Creveld syndrome in a fetus with rhizomelia and polydactyly. Report of a case diagnosed by genetic analysis, and correlation with pathological andradiologic findings.
abstract: Ellis-van Creveld syndrome is an autosomal recessive disorder mainly characterized by a disproportionate limb dwarfism, chondroectodermal dysplasia, congenital heart disease, postaxial polydactyly, and dysplastic fingernails and teeth. Only 300 cases have been published worldwide. We report a 21-week fetus with rhizomelia and polydactyly detected. Gross photographs, radiologic studies and pathological study were performed leading to the clinico-pathological suspicion of EvC. DNA from fresh fetal tissue was extracted for sequencing the EVC and EVC2 genes. p.W215X and p.R677X mutations were identified in the EVC2 gene in the fetal sample. Parental sample analysis showed the p.W215X mutation to be inherited from the mother and the p.R677X mutation from the father. The clinical information is essential not only to arrive at a correct diagnosis in fetuses with pathologic ultrasound findings, but also to offer a proper genetic counseling to the parents and their relatives.
authors.affiliation: Servicio de Genética, Instituto de Investigación Sanitaria-Fundación Jiménez Díaz (IIS-FJD), Madrid, Spain.
authors.forename: Milena
authors.initials: M
authors.lastname: Peraita-Ezcurra
authors.forename: Mónica
authors.initials: M
authors.lastname: Martínez-García
authors.forename: Víctor L
authors.initials: VL
authors.lastname: Ruiz-Pérez
authors.forename: María Eugenia
authors.initials: ME
authors.lastname: Sánchez-Gutiérrez
authors.forename: María
authors.initials: M
authors.lastname: Fenollar-Cortés
authors.forename: Camilo
authors.initials: C
authors.lastname: Vélez-Monsalve
authors.forename: Carmen
authors.initials: C
authors.lastname: Ramos-Corrales
authors.forename: Ignacio
authors.initials: I
authors.lastname: Pastor
authors.forename: Carlos
authors.initials: C
authors.lastname: Santonja
authors.forename: María José
authors.initials: MJ
authors.lastname: Trujillo-Tiebas
mesh_terms: D000328:Adult; D001344:Autopsy; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D004613:Ellis-Van Creveld Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D005260:Female; D005269:Femur / Q000002:abnormalities / Q000473:pathology; D005315:Fetal Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D006811:Humerus / Q000002:abnormalities / Q000473:pathology; D017689:Polydactyly / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology*; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods