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Revista chilena de pediatría

versão impressa ISSN 0370-4106


JUSTINIANO D, José Andrés et al. High incidence of abdominal wall hernias in patients with velocardiofacial syndrome. Rev. chil. pediatr. [online]. 2012, vol.83, n.1, pp.42-47. ISSN 0370-4106.

Velocardiofacial syndrome (VCFS) is due to a microdeletion on chromosome region 22q11.2. Clinically, it is characterized by congenital anomalies and psychiatric and cognitive manifestations. The most common structural defects are congenital heart disease and palatal anomalies, both due to abnormal development of the pharyngeal pouches. Another less studied manifestation is abdominal wall hernias. Objective: To characterize the frequency and types of hernias in patients with VCFS, and their association with congenital cardiopathies and palatine abnormalities. Patients and Methods: 202 patients were evaluated by direct clinical examination and questionnaire about their phenotypic characteristics. Results were compared to those found in the literature. Results: Age range was 0.5 to 48.4 years old (mean 11.9 years), 50.4% were females. Twenty two percent of patients had abdominal wall hernias. Of these, 49.1% were inguinal and 40.3%, umbilical. Conclusion: Patients with VCFS have a higher incidence of abdominal hernias than general population, described as approximately 5%. This is another common manifestation of the syndrome, not attributable to defects in development of pharyngeal pouches and with unknown pathogenesis.

Palavras-chave : Abdominal wall; congenital heart disease; hernia; velocardiofacial syndrome; 22q11 microdeletion.

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