Material necessary for a neuropediatric consultation.
Category archives: Morphological examination
When to suspect a genetic disease?
Diagnostic suspicion is based on 3 pillars: There are several diagnostic strategies, which can be grouped into:
Exploration dismorfológica.
When to suspect a genetic disease?
Exploration neurocutaneous.
Coarse facies.
There are many metabolic diseases characterized by coarse facies. Most of them are storage diseases and present a progressive phenotype that becomes more evident with age, making early diagnosis difficult. The best strategy is to implement a targeted screening, using GAGs in a...
Assessment of cephalic growth.
Cephalic growth is one of the easily monitorable parameters in pediatric age that allows us to evaluate growth, development, and the presence of underlying neurological problems.
Neurocristopathies: Embryology and neurodevelopment.
Human Phenotype Ontology
Currently, the use of computerized tools for information search makes it necessary to use standardized and coded nomenclature to refer to the dysmorphic signs that are part of the clinical phenotype. A significant effort has been made to systematize this nomenclature, adding an HPO code that can be searched on the Human … website.