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  • Title: [Apert syndrome: clinico-epidemiological analysis of a series of consecutive cases in Spain].
    Author: Arroyo Carrera I, Martínez-Frías ML, Marco Pérez JJ, Paisán Grisolía L, Cárdenes Rodríguez A, Nieto Conde C, Félix Rodríguez V, Egüés Jimeno JJ, Morales Fernández MC, Gómez-Ullate Vergara J, Pardo Romero M, Peñas Valiente A, Oliván del Cacho MJ, Lara Palma A.
    Journal: An Esp Pediatr; 1999 Dec; 51(6):667-72. PubMed ID: 10666902.
    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. PATIENTS AND 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. RESULTS AND 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.
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