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Case Reports
. 1992 Jul 15;114(1):30-4.
doi: 10.1016/s0002-9394(14)77409-4.

Hereditary microphthalmia with colobomatous cyst

Y Porges  1 , R Gershoni-Baruch, R Leibu, D Goldscher, S Zonis, I Shapira, B Miller
Affiliations
Case Reports

Hereditary microphthalmia with colobomatous cyst

Y Porges et al. Am J Ophthalmol. .

Abstract

We examined five members of a highly inbred kinship who had isolated microphthalmia associated with colobomatous cysts and various other ocular lesions. They were all offspring of consanguineous (first cousins) and unaffected parents. Microphthalmia in this kindred was transmitted as an autosomal recessive trait. Ultrasonography was effective for prenatal diagnosis in two pregnancies at risk.

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