منابع مشابه
CHARGE 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 کاملBehavior in CHARGE syndrome.
Unusual behavior is often associated with genetic syndromes, and may constitute a behavioral phenotype. In contrast to providing a psychiatric diagnosis, a behavioral phenotype describes what is unique to the behavior associated with different syndromes. While behaviors in CHARGE are as complex and variable as other aspects of the syndrome, there are some commonalities that raise the question o...
متن کاملExecutive function in CHARGE syndrome.
This study addressed the presence of executive dysfunction in children with CHARGE syndrome, a genetic disorder with multiple physical anomalies and severe challenging behaviors. Ninety-eight children were included in the study. More than half received clinically significant scores on the Behavior Rating Inventory of Executive Function (BRIEF; Gioia et al., 2000) scales of Shift, Monitor, and t...
متن کاملClinical characteristics of CHARGE syndrome.
CHARGE syndrome is a specific collection of non-randomly occurring congenital anomalies. The patient of CHARGE syndrome may be presented to ophthalmologists due to ocular coloboma. The acronym CHARGE stands for the major features of this syndrome: Coloboma of the eye, Heart defects, Atresia of the choanae, Retarded growth and development, Genital hypoplasia, and Ear anomalies and/or deafness. T...
متن کاملTerminal 6p deletion syndrome mimicking CHARGE syndrome: A case report.
The clinical features associated with terminal 6p deletion syndrome include anterior eye chamber defects, hearing loss, congenital heart anomalies and characteristic facies along with developmental delays. These features overlap with a number of other conditions including CHARGE syndrome. This acronym stands for non-random association of anomalies including coloboma of the eye, heart anomalies,...
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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.30540