Behavioral features of CHARGE syndrome: Parents' perspectives of three children with CHARGE syndrome
نویسندگان
چکیده
منابع مشابه
Behavioral features of CHARGE syndrome (Hall-Hittner syndrome) comparison with Down syndrome, Prader-Willi syndrome, and Williams syndrome.
CHARGE syndrome, or Hall-Hitner syndrome (HHS), has been delineated as a common syndrome that includes coloboma, choanal atresia, cranial nerve dysfunction (particularly asymmetric facial palsy and neurogenic swallowing problems), characteristic ear abnormalities, deafness with hypoplasia of the cochlea and semicircular canals, genital hypoplasia, and variable heart defects, orofacial clefting,...
متن کاملCochlear Implantation in children with CHARGE syndrome.
UNLABELLED CHARGE syndrome is a rare congenital condition that manifests with anomalies of coloboma, heart defects, choanal atresia, mental retardation, genitourinary and ear anomalies that can affect almost any part of the auditory pathway. In those patients with a significant sensorineural hearing loss, cochlear implantation has become a potential therapeutic option. METHODS Chart review of...
متن کاملCHARGE syndrome
CHARGE syndrome was initially defined as a non-random association of anomalies (Coloboma, Heart defect, Atresia choanae, Retarded growth and development, Genital hypoplasia, Ear anomalies/deafness). In 1998, an expert group defined the major (the classical 4C's: Choanal atresia, Coloboma, Characteristic ears and Cranial nerve anomalies) and minor criteria of CHARGE syndrome. Individuals with al...
متن کاملFeatures of DiGeorge syndrome and CHARGE association in five patients.
We report on five patients presenting with features of two congenital disorders, DiGeorge syndrome (DGS) and CHARGE association. CHARGE association is usually sporadic and its origin is as yet unknown. Conversely, more than 90% of DGS patients are monosomic for the 22q11.2 chromosomal region. In each of the five patients, both cytogenetic and molecular analysis for the 22q11.2 region were norma...
متن کاملCochlear Implants in Children Diagnosed with CHARGE Syndrome
Introduction The CHARGE association (coloboma of the eyes; heart disease; atresia of the choanae; retarded growth and development; genital hypoplasia/genitourinary anomalies; ear anomalies and/or hearing loss) was first described in 1979 by Hall, and among its main features is hearing loss. This study presents a case aiming to establish relationships between performance on Infant Toddler Meanin...
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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2005
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.30557