Síndrome apert. Presentación de un caso neonatal. Apert syndrome. A neonatal case report
Abstract
Se reportael caso de un recién nacido en quien se estableció el diagnóstico de Síndrome Apert ó Acrocefalosindactilia tipo I (MIM:101200*).El mismo se basa en la identificación de varios de los hallazgos clásicos de este síndrome como lo son: La craneosinostosis congénitade tipo acrobraquicefálica, la sindactilia de manos y pies, el hipertelorismo ocular y la hipoplasia del macizo facial medio, fundamentalmente.El caso se presentó de forma esporádica, como una mutación "de novo" autosómica dominante. Se describen las experiencias clínicas de su atención médica y se revisa convenientemente la literatura médica sobre el tema con especial referencia a los aspectos relacionados con la clínica genética.
Palabras Claves: Síndrome Apert - Genética Clínica- Atención médica neonatal- Asesoramiento genético.
ABSTRACT
A case of a newborn is reported, who was diagnosed with Apert's Syndrome or Acrocephalosindactilia Type I (MIM: 101200*). The diagnosis was based on the identification of some of the classic findings for this syndrome, which were basically: Acrobraquicephalia-type Congenital Craneosinostosis, hand and foot sindactilia, ocular hipertelorism and hypoplasia of mid-facial dull bone. The case was presented sporadically, as a "de novo" autosomical dominant mutation. Clinical experiences of its medical assistance are described and the medical literature on the topic is conveniently revised, with special reference to aspects related to genetics Clinic.
Key words : APERT'S SYNDROME, GENETIC CLINICS, NEONATAL MEDICAL ASISTANCE, GENETIC ADVISORSHIP.
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