title: [Chondrodysplasia punctata associated with Down's syndrome. Presentation of a case and review of the literature].
abstract: A case of chromosomic aberration and chondrodysplasia punctata is presented. Nine similar have been previously reported being this case first described in Spain. Hypothesis arouse from these observations suggest that they are different entities but also permit to include bone alterations among chromosomic aberration signs.
authors.affiliation: Servicio de Neonatología, Hospital Infantil La Paz, Universidad Autónoma, Madrid.
authors.forename: J
authors.initials: J
authors.lastname: Hernández
authors.forename: S
authors.initials: S
authors.lastname: Salas
authors.forename: I
authors.initials: I
authors.lastname: Pastor
authors.forename: J
authors.initials: J
authors.lastname: Quero
authors.forename: F
authors.initials: F
authors.lastname: Collado
authors.forename: F
authors.initials: F
authors.lastname: Omeñaca
mesh_terms: D002806:Chondrodysplasia Punctata / Q000150:complications* / Q000453:epidemiology; D004314:Down Syndrome / Q000150:complications* / Q000453:epidemiology; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013030:Spain
vernacular_title: Condrodisplasia punctata asociada a síndrome de Down. Presentación de un caso y revisión de la literatura.