title: [Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].
abstract: OBJECTIVE
  Apert syndrome is one of the five craniosynostosis syndromes caused by allelic mutations of the fibroblast growth-factor receptor 2 (FGFR2). It is characterized by symmetrical cutaneous and bony syndactyly of the hands and feet and a variety of pleiotrophic features of the skeleton, central nervous system, skin and internal organs.
  
  
  METHODS
  We show the clinical and epidemiological characteristics of the 17 cases of Apert syndrome identified in a consecutive series of 26,956 malformed liveborn infants detected among 1,502,639 livebirths surveyed by the Spanish Collaborative Study of Congenital Malformations (CEMC) between April 1976 and March 1998.
  
  
  CONCLUSIONS
  The estimated frequency of Apert syndrome in Spain is 0.11 per 10,000 liveborn infants. All of the cases were sporadic and were associated with an increased paternal age. The clinical manifestations of our cases are concordant with the variable expression of the syndrome, with the cardinal features of acrocephaly secondary to craniosynostosis and syndactyly of hands and feet present in all cases, and other anomalies, including cardiovascular (23.5%), cleft palate (23.5%), urinary (5.9%) and central nervous system (5.9%), in some of the patients.
authors.affiliation: Sección de Neonatología, Hospital San Pedro de Alcántara, Cáceres.
authors.forename: I
authors.initials: I
authors.lastname: Arroyo Carrera
authors.forename: M L
authors.initials: ML
authors.lastname: Martínez-Frías
authors.forename: J J
authors.initials: JJ
authors.lastname: Marco Pérez
authors.forename: L
authors.initials: L
authors.lastname: Paisán Grisolía
authors.forename: A
authors.initials: A
authors.lastname: Cárdenes Rodríguez
authors.forename: C
authors.initials: C
authors.lastname: Nieto Conde
authors.forename: V
authors.initials: V
authors.lastname: Félix Rodríguez
authors.forename: J J
authors.initials: JJ
authors.lastname: Egüés Jimeno
authors.forename: M C
authors.initials: MC
authors.lastname: Morales Fernández
authors.forename: J
authors.initials: J
authors.lastname: Gómez-Ullate Vergara
authors.forename: M
authors.initials: M
authors.lastname: Pardo Romero
authors.forename: A
authors.initials: A
authors.lastname: Peñas Valiente
authors.forename: M J
authors.initials: MJ
authors.lastname: Oliván del Cacho
authors.forename: A
authors.initials: A
authors.lastname: Lara Palma
mesh_terms: D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000453:epidemiology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013030:Spain