HEREDITARY MICROPHTHALMIA WITH COLOBOMATOUS CYST

被引：37

作者：

PORGES, Y

GERSHONIBARUCH, R

LEIBU, R

GOLDSCHER, D

ZONIS, S

SHAPIRA, I

MILLER, B

机构：

[1] RAMBAM MED CTR,DEPT PEDIAT,IL-31096 HAIFA,ISRAEL

[2] RAMBAM MED CTR,DEPT DIAGNOST RADIOL,IL-31096 HAIFA,ISRAEL

[3] TECHNION ISRAEL INST TECHNOL,FAC MED,BRUCE RAPPAPORT FAC MED,HAIFA,ISRAEL

[4] BNAI ZION MED CTR,DEPT OBSTET & GYNECOL,HAIFA,ISRAEL

来源：

AMERICAN JOURNAL OF OPHTHALMOLOGY | 1992年 / 114卷 / 01期

关键词：

D O I：

10.1016/S0002-9394(14)77409-4

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

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.

引用

页码：30 / 34

页数：5

共 20 条

[1] 2 46,XX,T(X-Y) FEMALES WITH LINEAR SKIN DEFECTS AND CONGENITAL MICROPHTHALMIA, A NEW SYNDROME AT XP22.3 [J].