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Confirmation of the colobomatous macrophthalmia with microcornea syndrome: Report of another family

✍ Scribed by Pallotta, Rosanna; Fusilli, Paola; Sabatino, Giuseppe; Verrotti, Alberto; Chiarelli, Francesco

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 9 KB
Volume: 76
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980319)76:3<252::aid-ajmg9>3.0.co;2-s

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✦ Synopsis

We report on the occurence of microcornea, coloboma, and macrophthalmia in 4 generations of an Italian family. The patients had no additional physical anomalies, were of normal intelligence, and had a normal karyotype. This condition has been reported in only 1 family [Bateman and

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