![]() ![]() Many had a characteristic facial appearance: unusually shaped ears, unilateral facial palsy, square face, malar flattening, and pinched nostrils. All the boys had evidence of hypogonadism. All had ear anomalies or deafness or both and either coloboma or choanal atresia or both. (1988) described 14 boys and 6 girls, including monozygotic twins, who all had at least 4 of the 7 major features included in the mnemonic CHARGE. (1988) reported supravalvular and peripheral pulmonary stenosis in a patient with CHARGE association who also had an atrial septal defect. Tetralogy of Fallot is the most frequent type of heart defect reported in the CHARGE association ( Cyran et al., 1987). His mother was short and had hearing impairment, choanal atresia, and a coloboma of the left iris. (1987) reported a patient with CHARGE syndrome as manifested by coloboma of the optic nerve head, congenital heart defect (ASD, VSD, and parachute mitral valve), choanal atresia, severe growth retardation, genital hypoplasia, abnormal ears, cleft lip and palate, and pectus carinatum. Feeding difficulties are striking even in the absence of cleft palate or tracheoesophageal fistula. Congenital facial paralysis occurs in few other conditions. Mixed conductive and sensorineural deafness causes an audiogram with a descending bone conduction curve intersecting at low frequencies with a flat curve for air conduction. They pointed to external ear malformations (see their photographs) and a 'wedge-shaped' audiogram that may be unique features valuable in diagnosis. They concluded that CHARGE is a recognizable pattern of malformations and a true syndrome rather than an association. (1986) described 15 cases, 9 sporadic and 6 familial. Infants with bilateral choanal atresia plus cardiac defects and those with choanal atresia plus renal malformations had a high mortality rate. A certain degree of dysmorphism (low-set and dysplastic ears, retrogenia, antimongoloid slant of palpebral fissures, anteverted nares) was observed in each of their 6 patients. Their findings validated the CHARGE association but suggested the inclusion of orofacial clefts and esophageal atresia as main features. Koletzko and Majewski (1984) described 6 patients with choanal atresia and additional malformations and reviewed 11 previously reported cases. They noted that multiple other anomalies may be associated. (1979) reported 10 individuals, including a mother and child, with colobomatous microphthalmia, heart disease, abnormalities of the external ear with associated hearing loss, and mental retardation. Hall (1979) reported a constellation of nonrandomly associated malformations occurring with choanal atresia. The first descriptions of this syndrome were provided by Hall (1979) and Hittner et al. Facial palsy, cleft palate, and dysphagia are commonly associated. Choanal atresia (see 608911) is a feature of the CHARGE association: coloboma of the eye heart anomaly atresia, choanal retardation of mental and somatic development microphallus ear abnormalities and/or deafness ( Pagon et al., 1981). ![]()
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