Overlapping Spectrum of Craniofacial Microsomia Phenotype in Cat-Eye Syndrome.
Cleft Palate Craniofac J
; : 10556656231174435, 2023 May 14.
Article
em En
| MEDLINE
| ID: mdl-37183441
ABSTRACT
This study reports three patients with Cat-eye Syndrome (CES), two of which present a previous clinical diagnosis of Craniofacial microsomia (CFM). Chromosomal microarray analysis (CMA) revealed a tetrasomy of 1,7 Mb at the 22q11.2q11.21 region, which is the typical region triplicated in the CES, in all patients. The most frequent craniofacial features found in individuals with CFM and CES are preauricular tags and/or pits and mandibular hypoplasia. We reinforce that the candidate genes for CFM features, particularly ear malformation, preauricular tags/pits, and facial asymmetry, can be in the proximal region of the 22q11.2 region.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Cleft Palate Craniofac J
Assunto da revista:
ODONTOLOGIA
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Brasil