The charge association in a newborn infant
Makaleler > Tam Makale · 1998
Yazarlar: Mete AKISU, Feriştah Ferda ÖZKINAY, R OZYUREK, A KUCUKTAS, NİLGÜN KÜLTÜRSAY
TURKISH JOURNAL OF PEDIATRICS, SCI Expanded İndekslerine Giren Dergi, Uluslararası, 1998, cilt 40, ss 283-287
Özet
CHARGE association is the nonrandom association of congenital anomalies, including choanal atresia, coloboma, heart defects, retardation of growth and development, genital hypoplasia and ear abnormalities. We report a male newborn infant with CHARGE associatilon. Other congenital abnormalities include micrognathia, high-arched palate, facial asymmetry, broad nasal bridge, hypertelorism, asymmetric eye size, and left microphthalmia. On radiologic examination, hemivertebrae were detected on the thoracal vertebrae. Although both autosomal and recessive transmission have been reported, most cases of CHARGE association have been sporadic (karyotype analysis is generally reported to be normal as in our patient). Transmission and recurrence risk of this association are not known. The presence of choanal atresia and/or coloboma must alert the clinician to search for other abnormalities for diagnosis of CHARGE association.