title: [Apert syndrome: a reported observation].
abstract: Apert syndrome is a type of acrocephalosyndactylia that belongs to the group of craniofacial synostoses. It is characterised by craniofacial dysmorphia and syndactyly of hands and feet. It is an uncommon affection that is often transmitted through an autosomal dominant mode, but sporadic cases are frequent. We report the case of a 2 months old baby brought by his parents to the paediatric emergencies for respiratory distress occurring within the framework of a polymalformative syndrome. The examination showed brachycephaly, bilateral exorbitism, syndactyly of the hands and feet and an anal fistula. Echocardiographic examination showed a cardiovascular malformation (interventricular communication), the whole suggestive of Apert syndrome. The child was admitted in intensive care during five days. He died following a respiratory infection. Through this observation the authors illustrate the clinical and evolutionary aspects as well as the therapeutic difficulties of this affection.
authors.affiliation: Service d'Ophtalmologie pédiatrique, Hôpital 20 Août, Casablanca, Maroc. said.dihaj1@caramail.com
authors.forename: S
authors.initials: S
authors.lastname: Dihaj
authors.forename: A
authors.initials: A
authors.lastname: Abada
authors.forename: T
authors.initials: T
authors.lastname: Baha Ali
authors.forename: M
authors.initials: M
authors.lastname: Benhaddou
authors.forename: L
authors.initials: L
authors.lastname: Rais
authors.forename: M
authors.initials: M
authors.lastname: Hamdani
authors.forename: A
authors.initials: A
authors.lastname: Amraoui
authors.forename: K
authors.initials: K
authors.lastname: Zaghloul
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000628:therapy*; D004452:Echocardiography; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male