Abstract

VARA CUESTA, Omar León; MILIAN CASANOVA, Rita Inés; PILONA RUIZ, Sergio  and  JUAN RODRIGUEZ, Jesús. Apert syndrome. A neonatal case report. Rev Ciencias Médicas [online]. 2006, vol.10, n.1, pp.51-60. ISSN 1561-3194.

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.

Keywords : APERT'S SYNDROME; GENETIC CLINICS; NEONATAL MEDICAL ASISTANCE; GENETIC ADVISORSHIP.

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