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Revista chilena de pediatría

versión impresa ISSN 0370-4106

Resumen

CRUZ-PEREA, Manuel et al. Ellis van Creveld: Case report. Rev. chil. pediatr. [online]. 2014, vol.85, n.5, pp.578-583. ISSN 0370-4106.  http://dx.doi.org/10.4067/S0370-41062014000500008.

Introduction: Ellis-van Creveld (EVC) (OMIM # 225500) syndrome is a rare skeletal dysplasia disorder transmitted by autosomal recessive inheritance. The diagnosis is made based on phenotypic characteristics such as chondrodysplasia, heart defects and polydactyly. The prognosis depends mainly on the severity of the disease, diagnosis and comprehensive management of the condition. Objective: To describe a patient diagnosed with EVC syndrome. Case report: Newborn diagnosed with EVC syndrome who presented dysmorphic facies, shortened long bones, rhizomelic shortening, small hands, brachydactyly, single transverse palmar crease, postaxial polydactyly in the upper limbs, bilateral preaxial polysyndactyly in lower limbs and hypoplastic nails, complex heart defects and narrow thorax. The evolution was unfavorable; the patient died 8 weeks after birth from complications due to heart defects. Conclusions: EVC syndrome is rare and unknown; therefore, it is important to spread its characteristics within the pediatric community, emphasizing that it affects multiple organ systems and requires a multidisciplinary approach to treat individually each patient, to provide genetic and reproductive counseling to couples and to give information regarding child development expectations.

Palabras clave : Ellis-van Creveld syndrome; Chondroectodermal dysplasia; Polydactyly; Congenital anomalies.

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