In 1981 Pagon reported cases of complex anomalies which he named CHARGE association : Coloboma, Heart disease, Atresia of choanae, Retarded growth and development and/or CNS anomalies, Genital hypoplasia, Ear anomalies. We report here a rare case of suspected CHRAGE association with multiple anomalies and an abnormal chromosome pattern 47-XXX. The mother was admitted for PROM at 35weeks of gestation and monitored for prolonged variable fetal heart rate. Emergency cesarean section was performed for fetal distress. The baby weighed 2288gm and had an Apgar score of 5/9.
The umbilical cord was attached to the amniotic membranes. She had many anomalies, including a defect of the right auricle and external acoustic meatus, facial palsy, microphthalmia, atrial septal defect and coloboma uvea. CHARGE assciation was suspected and the chromosomal pattern was abnormal, 47-XXX. At 6months of age, her height was 62cm, weight 5140gm, head circumference 41.5cm. Her growth since then has been retarded, but neurological development appears to be normal. Neck stability, vision and hearing are normal. Now we are following the growth and development of this patient carefully. [Adv Obstet Gynecol 46 (4); 401-406, 1994 (H6. 7)]
