Abstract
Craniofacial malformations and chromosomal aberrations are considered to be alterations in the phenotypic structure and may be considered secondary to errors of the birth. All these alterations should be observed during childhood and rating by chromosomal karyotype or deficiency in DNA repair. Pediatric patients were valued and showed different congenital and chromosomal alterations. These changes to level structure organic and multisystemic, were analyzed as well as chromosomal rearrangements which were classified as numerical and structural alterations respectively. Another group of genetic alterations are known as mutations and are inherited in different generations. A wide range of pediatric patients with congenital and genetic diseases by alterations mainly associated with craniofacial development during pregnancy, prenatal, or at birth are described in this study analyzing features clinical, medical, or surgical procedures and medical evolution according to malformation syndrome in study.