The CHARGE association in a newborn infant.
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 association. 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.
Ege University Faculty of Medicine, Izmir.
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Akisü
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Ozkinay
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Ozyürek
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Küçüktaş
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Kültürsay
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D002754:Choanal Atresia / Q000175:diagnosis*; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis*; D004423:Ear / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000175:diagnosis*; D005146:Facial Asymmetry / Q000151:congenital / Q000175:diagnosis*; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome