title: [Weaver syndrome. 1st case reported in Venezuela].
abstract: A 2 years and 9 months old female patient, with the diagnosis of Weaver syndrome is reported. The proband presents persistent pre and post-natal overgrowth, asynchronic advanced bone age, particular facies, (macrocephaly, ocular hypertelorism, micrognathia, large ears), bilateral widening of the distal femoral metaphysis, bilateral tibia vara, prominent fetal fingerpads, clinodactyly, development delay, low pitched and hoarse cry, nonspecific cortical atrophy, dilation of the ventricles and vermix hypoplasia. The differential diagnosis with other overgrowth syndromes is discussed. The possibility of uniparental disomy and genetic imprinting as the basic genetic defect in the Weaver syndrome is suggested. The patient reported here appears to be the first case in the Venezuelan literature.
authors.affiliation: Centro de Microscopía Electrónica, Unidad de Genética, Universidad de Oriente, Estado Bolívar, Venezuela.
authors.forename: O
authors.initials: O
authors.lastname: Sánchez
authors.forename: S
authors.initials: S
authors.lastname: Boufajreldin
authors.forename: C
authors.initials: C
authors.lastname: Oranges
authors.forename: C
authors.initials: C
authors.lastname: Orta
authors.forename: D
authors.initials: D
authors.lastname: Guerra
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D000365:Age Determination by Skeleton; D002675:Child, Preschool; D002885:Chromosomes, Human, Pair 16 / Q000648:ultrastructure; D003394:Craniofacial Dysostosis / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D018392:Genomic Imprinting; D006130:Growth Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D006801:Humans; D007621:Karyotyping; D013577:Syndrome; D014687:Venezuela / Q000453:epidemiology
vernacular_title: Síndrome de Weaver. Primer caso reportado en Venezuela.