ABSTRACT
CHARGE syndrome, first described by Pagon, was named for its six major clinical features. They are: coloboma of the eye, heart defects, atresia of the choanae, retarded growth and development including CNS anomalies, genital hypoplasia and/or urinary tract anomalies, and ear anomalies and/or hearing loss. We experienced three cases of CHARGE syndrome who displayed ocular coloboma, heart defects, retarded growth and development, and external ear anomalies, and we also review the previously reported literature concerning CHARGE syndrome.
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Abnormalities, Multiple/genetics , Abnormalities, Multiple/diagnosis , Brain/abnormalities , Choroid/abnormalities , Coloboma/genetics , Coloboma/diagnosis , Ear, External/abnormalities , Entropion/genetics , Entropion/diagnosis , Exotropia/genetics , Exotropia/diagnosis , Exotropia/congenital , Facial Paralysis/genetics , Facial Paralysis/congenital , Heart Defects, Congenital/genetics , Heart Defects, Congenital/diagnosis , Karyotyping , Mandible/abnormalities , Retina/abnormalities , SyndromeSubject(s)
Humans , Exotropia/congenital , Eye Movements , Diagnosis, Differential , Exotropia/diagnosisABSTRACT
Objetivou-se estudar a incidência da ambliopia no estrabismo horizontal. Estudaram-se 302 pacientes com eso e exotropias, sendo 245 do primeiro grupo e 57 do segundo. Além disso, subdividiram-se as esotropias em esotropias congênitas, esotropias acomodativas e esotropias näo acomodativas. A incidência da ambliopia no desvio horizontal em geral é de 54,30%, sendo sua freqüência de 59,18% na esotropia e de 33,33% na exotropia. Ao subdividir-se a esotropia, obteve-se, na esotropia congênita 63,63% de amblíopes, na acomodativa, 53,39% e na näo acomodativa 65,57%, dados mutio elevados e com grande importância em saúde pública