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A recognizable syndrome within CHARGE association: Hall-Hittner syndrome

โœ Scribed by Graham, John M.


Publisher
John Wiley and Sons
Year
2001
Tongue
English
Weight
127 KB
Volume
99
Category
Article
ISSN
0148-7299

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โœฆ Synopsis


CHARGE association was initially delineated as a non-random pattern of congenital anomalies that occurred together more frequently than one would expect on the basis of chance. It occurs with an estimated frequency of 1:10,000ยฑ15,000 and is a common cause of multiple congenital anomalies. Within the group of children diagnosed with CHARGE association, there is clearly a subgroup with such distinctive clinical characteristics that they appear to manifest a recognizable syndrome. The recent paper by Amiel et al. [2000] on temporal bone malformations patients with CHARGE syndrome presents compelling evidence that absence or hypoplasia of the semicircular canals should be considered a major diagnostic criterion for CHARGE syndrome. They present three patients with characteristic facial and ear ยฎndings in CHARGE association, but who lack both ocular colobomata and choanal atresia, and they assert that the speciยฎcity of the pattern of malformation in CHARGE association ``is consistent enough to consider this a syndrome.'' I agree that more precise diagnostic criteria seem to deยฎne a concise, recognizable syndrome within the group of patients with CHARGE association, and that these patients may manifest a disorder with a single pathogenetic basis, i.e., a syndrome. CHARGE syndrome was ยฎrst described in 1979 by Hall [1979] in 17 children with multiple congenital anomalies, who were ascertained because of choanal atresia. Hall emphasized that the ears were small, lowset, and deformed, without being microtic, and that this


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