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

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 Maumenee, 1984: Ophthalmol Pediatr Genet 4:59-66], The recurrence of this distinctive ocular pattern in our opinion confirms the existence of a new syndrome, with autosomal dominant inheritance, (C) 1988 Wiley-Liss, Inc.