title: [Achondroplasia and Down syndrome in the same patient. Report of a case].
abstract: Achondroplasia and trisomy 21 are, within their respective categories, conditions the most frequent genetic diseases found in newborns. The simultaneous presence of both conditions in the same patient, has been however, reported only once in the world literature. In this paper we present a patient affected by both entities (Achondroplasia and Trisomy 21). The clinical findings and the reasons for the rare reported frequency of these cases are discussed.
authors.affiliation: Centro de Microscopía Electrónica, Escuela de Medicina, Universidad de Oriente, Nucleo Bolívar, Venezuela.
authors.forename: O
authors.initials: O
authors.lastname: Sánchez
authors.forename: D
authors.initials: D
authors.lastname: Guerra
authors.forename: J
authors.initials: J
authors.lastname: Nastasi
authors.forename: J
authors.initials: J
authors.lastname: Escalona
mesh_terms: D000130:Achondroplasia / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004314:Down Syndrome / Q000150:complications* / Q000235:genetics; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011859:Radiography; D013398:Sudden Infant Death
vernacular_title: Acondroplasia y síndrome de Down en un mismo paciente. Reporte de un caso.