We report on two new patients who had unilateral microphthalmia and esophageal atresia. A similar association was previously described in six patients. The accumulation of the eight affected patients provides further support for recognizing this association as a distinct syndrome. Am. J. Med. Genet.
β¦ LIBER β¦
Association of microphthalmia and esophageal atresia: Description of a patient and review of the literature
β Scribed by Messina, Mario ;Ferrucci, Elisabetta ;Buonocore, Giuseppe ;Scarinci, Renato ;Garzi, Alfredo
- Publisher
- John Wiley and Sons
- Year
- 2003
- Tongue
- English
- Weight
- 78 KB
- Volume
- 119A
- Category
- Article
- ISSN
- 0148-7299
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β¦ Synopsis
Abstract
Since 1988, when Rogers first described a boy with anophthalmia associated with esophageal atresia, eight similar cases have been reported. These patients lend support to the hypothesis that this association of congenital anomalies constitutes a discrete entity, although the etiology is still unknown.We report a patient with this combination of malformations as well as a marked hypoplasia of the entire left half of the body. Β© 2003 WileyβLiss, Inc.
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