Charge association
نویسندگان
چکیده
منابع مشابه
CHARGE association.
CHARGE association is a heterogeneous condition that affects several organ systems, including the eye, ear, nose, heart, and genitals. Hearing loss is a common finding in CHARGE association; therefore, audiologists and otolaryngologists need to be familiar with this relatively common entity.
متن کاملThe CHARGE association.
The CHARGE association We read with interest the proposal of a new autosomal recessive syndrome by Hurst etal Med Genet 1989;26:407-9) based on the description of two sibs with ASD, VSD, developmental delay, poor growth, microcephaly, low set, posteriorly rotated ears, and other dysmorphic features. The brother had choanal stenosis and the sister was also suspected to have choanal stenosis, but...
متن کاملImmune deficiency in CHARGE association.
CHARGE association is the sporadic, non-random concurrence of Coloboma of the eye, Heart anomalies, choanal Atresia, Retardation of growth and development, Genitourinary anomalies, Ear anomalies and deafness (CHARGE association). Other abnormalities have also been reported in small numbers of patients with CHARGE association. The molecular basis of the CHARGE association is not clear. The spect...
متن کاملThe CHARGE association and athyreosis.
We report on a male infant with congenital hypothyroidism owing to athyreosis occurring with the CHARGE association (bilateral papillary coloboma, congenital heart disease, dysmorphic ears, sensorineural deafness, psychomotor retardation, cryptorchidism, facial palsy, and vesicoureteral reflux). The coexistence of these two disorders has not been described previously.
متن کاملWho's in CHARGE? Multidisciplinary management of patients with CHARGE association.
Clinical experience of 50 patients with the CHARGE association is reviewed and problems with management of children born with multiple system involvement is highlighted. It was found that the outlook for survival was poor if more than one of the following three features was present: cyanotic cardiac lesions, bilateral posterior choanal atresia, or tracheo-oesophageal fistula. Mortality was larg...
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ژورنال
عنوان ژورنال: Ear, Nose & Throat Journal
سال: 1999
ISSN: 0145-5613,1942-7522
DOI: 10.1177/014556139907800607