title: Malocclusions and craniofacial anomalies in a child with velo-cardio-facial syndrome.
abstract: Velo-Cardio-Facial syndrome (VCFS), also called 22q11.2 microdeletion syndrome, is a rare pathology. The syndrome is caused by 22q11.2 deletion, recognized as one of the most frequent pathogenic human microdeletions. The scope and severity of the phenotypic expression of 22q11.2 microdeletion is characterised by high variability, although cleft palate and congenital conotruncal malformations are among the clinical features often associated with that syndrome. In the presented case of a boy patient with submucous cleft palate and congenital cardiac defect, 22q11.2 microdeletion was identified at the age of 13 months. In the presented paper particular emphasis was placed on the issue of dental and orthodontic care in patients with changes in the oral cavity and the craniofacial area, as well as on the possibilities of treatment and prophylaxis. The necessity to perform a thorough examination of the oral cavity in infants was also underlined as a vital element of clinical assessment, in particular in the case of co-occurring structural defects of internal organs.
authors.forename: Teresa
authors.initials: T
authors.lastname: Matthews-Brzozowska
authors.forename: Joanna
authors.initials: J
authors.lastname: Baranowska
authors.forename: Piotr
authors.initials: P
authors.lastname: Rogiński
authors.forename: Ewa
authors.initials: E
authors.lastname: Obersztyn
authors.affiliation: Orthodontic Department for Children, Institute of Mother and Child, Kasprzaka 17a, 01-211 Warsaw, tel. (+48 22) 32-77-128, e-mail: dcudzilo@gmail.com.
authors.forename: Dorota
authors.initials: D
authors.lastname: Cudziło
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002892:Chromosomes, Human, Pair 22; D002972:Cleft Palate / Q000175:diagnosis* / Q000235:genetics; D005146:Facial Asymmetry / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008310:Malocclusion / Q000175:diagnosis* / Q000235:genetics; D010641:Phenotype; D013577:Syndrome