Clinical and genetic approach to the dysmorphic child

Abstract

The child affected by a malformative syndrome represents a care challenge for the pediatrician. He is in fact the heart of the multidisciplinary team that has to manage the patient, trying to control the complications of his/her syndrome and promoting the correct psychophysical development. What we must not forget is that the pediatrician provides a continuous support to the child's family, assisting them from the diagnosis to the management of problems related to the syndrome. This encourages the continuous follow-up of these children remembering also that the pediatrician is fundamental in the clinical management of the syndrome and for facilitating the social integration of these children.

A Healthy Gut for a Healthy Brain: Preclinical, Clinical and Regulatory Aspects

“…FASD is the most common cause of mental retardation developed in childhood, therefore totally avoidable, through the complete abstaining of the pregnant woman from the intake of alcohol [ 194 - 196 ]. The outcomes of alcohol on the fetus range from the absence of damage to abortion, including a spectrum of clinical expressions as neonatal congenital morphological defects and neurological development disruptions [ 195 , 197 , 198 ]. Although FASD is a quite common cause of mental disabilities, there are still no crystal data on its incidence leading to an underestimation of the problem.…”

The Impact of Oxidative Stress on Pediatrics Syndromes

“…For this reason, we have examined pediatric syndromes that are related to an alteration of oxidative stress, such as fetal alcohol spectrum disorders (FASD), Williams syndrome, Down syndrome, Marfan syndrome, Gaucher syndrome, ataxia–telangiectasia, autistic spectrum disorders, Fanconi’s anemia, and primitive immunodeficiencies [ 5 , 6 , 7 , 8 , 9 ].…”