Auditory and Temporal Bone Abnormalities in Charge Association

Abstract

CHARGE association is a recently described cluster of congenital defects including ocular coloboma, heart disease, choanal atresia, retarded development and/or CNS abnormalities, genital hypoplasia, and ear anomalies. Although congenital hearing loss has been reported in CHARGE association, no information regarding the underlying temporal bone disease is available in the literature to date. The authors evaluated four patients with multiple anomalies consistent with CHARGE syndrome. Two surviving patients have bilateral severe hearing loss on auditory brain stem response testing. Two patients did not survive, and their temporal bones were obtained at autopsy for histologic examination. All four temporal bones showed severe middle ear defects including ossicular deformities, absence of the stapedius muscle, absence of the oval window, aberrant course of the facial nerve, and dehiscence of the facial nerve canal. In the more severely affected case, a Mondini-type malformation of the cochlea was present, together with multiple anomalies of the vestibular apparatus. Vestibular defects also occurred in the other case; however, the cochleae were found to be normally developed.

Quantitative analysis of limb anomalies in CHARGE syndrome: Correlation with diagnosis and characteristic CHARGE anomalies

“…Sixty-four patients (37.2%) had at least one limb anomaly (Table I) [Angelman, 1961;Ho et al, 1975;Rabaeus et al, 1983;Warburg, 1983;Bergstrom and Owens, 1984;Koletzko and Majewski, 1984;Dobrowski et al, 1985;Klein et al, 1985;Siebert et al, 1985;Davenport et al, 1986;Goldson et al, 1986;Wright et al, 1986;Brown et al, 1987;Chestler and France, 1988;Meinecke et al, 1989;Harvey et al, 1991;Marín et al, 1991;Van Meter and Weaver, 1996;de Lonlay-Debeney et al, 1997;Murofushi et al, 1997;Prasad et al, 1997;Dhooge et al, 1998;Kumar et al, 1999;Al Shamsan et al, 2000;Feigl et al, 2000;Haginomori et al, 2002;James et al, 2003]. The 64 patients had a total of 128 limb anomalies.…”

“…Familial CHARGE patients, and patients with CHARGE phenotype with an abnormal karyotype were excluded. A total of 172 patients were included for study [Angelman, 1961;Edwards et al, 1961;Stool and Kemper, 1968;Buckfield et al, 1971;Levin et al, 1973;Ho et al, 1975;Sekhar and Sachs, 1976;Hittner et al, 1979;August et al, 1983;Curatolo et al, 1983;Rabaeus et al, 1983;Warburg, 1983;Bergstrom and Owens, 1984;Koletzko and Majewski, 1984;Dobrowski et al, 1985;Kaplan, 1985;Klein et al, 1985;Pardo and Chua, 1985;Siebert et al, 1985;Davenport et al, 1986;Goldson et al, 1986;Wright et al, 1986;Brown et al, 1987;Guyot et al, 1987;Stewart et al, 1987;Chestler and France, 1988;Coniglio et al, 1988;Ivarsson et al, 1988;Peters and Pontz, 1988;Wood et al, 1988;Allouche et al, 1989;Meinecke et al, 1989;Bartik et al, 1990;Ghalili et al, 1990;Menenzes and Coker, 1990;Harvey et al, 1991;Marín et al, 1991;Giorgetti et al, 1992;Venetikidou, 1993;…”

Central nervous system malformations in the CHARGE association

“…However, for the comparison of CNS malformations with other anomalies, we analyzed CNS malformations and mental and growth retardation separately. One hundred thirty-six patients reported in the literature [Edwards et al, 1961;Stool and Kemper, 1968;James et al, 1974;Ho et al, 1975;Sekhar and Sachs, 1976;Say et al, 1977;Sassani and Yanoff, 1977;Hittner et al, 1979;Hall, 1979;Lillquist et al, 1980;Pagon et al, 1981;Bartoshesky et al, 1982;August et al, 1983;Curatolo et al, 1983;Warburg, 1983;Koletzko and Majewski, 1984;Awrich et al, 1984;Bergstrom and Owens, 1984;Dobrowski et al, 1985;Kaplan, 1985;Wright et al, 1986;Goldson et al, 1986;Kveselis et al, 1986;Davenport et al, 1986;Beemer et al, 1986;Lin et al, 1987;Rogers and Hamilton, 1987;Metlay et al, 1987;Stewart et al, 1987;Chestler and France, 1988;Hall and Blumberg, 1988;Oley et al, 1988;Meinecke et al, 19891 and 8 new patients are discussed herein.…”

CHARGE syndrome: an update

“…Preauricular tags, hypoplastic auditory canal and microtia can be associated. Middle ear is sometimes affected: 25,26 absence of the stapedius muscle, absence of the oval window, and hypoplastic incus and stapes, with ossicular chain fixation. 25,27 Chronic serous otitis is often present, and may contribute to hypoacousia.…”