![]() In addition, both infants had plagiocephaly and torticollis, and the boy had cleft lip, heminostril, and tracheoesophageal fistula. Van Meter and Weaver (1996) reported 2 infants (a male and a female) with significant overlap of symptoms of CHARGE association and Goldenhar anomaly ( 164210). The presence of CNS malformation was most strongly associated with choanal atresia. Of the 47, 26 (55%) had definite central nervous system malformations, predominantly forebrain anomalies, particularly arhinencephaly and holoprosencephaly. In 47 of these, either a postmortem examination or a computerized axial tomography of the head had been performed. (1990) reviewed 136 patients from the literature and added 8 more. (1990) reviewed the clinical experience of 50 patients with CHARGE syndrome. (1989) described the rare association of cutaneous syndactyly and nail hypoplasia with the more frequent features of the CHARGE syndrome.īlake et al. Bialer and Brown (1990) argued that the diagnosis was indeed the CHARGE association in the case of the sibs reported by Hurst et al. ![]() ![]() (1989) suspected that the girl had mild choanal stenosis because she had problems in feeding and sucking in the first few months of life. The boy had bilateral choanal hypoplasia and stenosis, and Hurst et al. (1989) reported a brother and sister who had atrial septal defect and ventricular septal defect, short stature, microcephaly, developmental delay, and similar dysmorphic facial appearance. 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, downslanting 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.
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