1Scuola di Specializzazione in Pediatria, Università Insubria di Varese-Como, Clinica Pediatrica Ospedale F. Del Ponte, Varese; 2Pediatra di famiglia, ASL Monza Brianza; 3UOS di Genetica Clinica Pediatrica, Fondazione MBBM, Clinica Pediatrica, Monza
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Key words: Paediatric geneticist, Genetic diagnosis, Syndrome, Malformation
The diagnosis of a genetic syndrome is very important in the life of a child and of their family for various reasons. Thus, paediatricians should be alert because the possible starting manifestations of a syndrome are really very different and variable. Sometimes the clinical picture is absolutely clear, sometimes the patient has apparently only one major problem (major malformation, psychomotor delay, growth abnormality, functional deficit like hypoacusis). The paper describes the methodological approach that every paediatricians should consider in front of a child with one or more alarm clinical signs in order to suspect a specific diagnosis or to be convinced that a specialized evaluation is mandatory for their patient. Although it is not the paediatrician's duty to do the specific diagnosis of a child with a possible malformative syndrome, it is absolutely mandatory that they have the first suspicion and thus start the diagnostic route.
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