A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
A family with a syndrome of ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
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DOI：
10.3109/13816819509057858
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发表时间：
1995-12-01
影响因子：
1.2
通讯作者：
Traboulsi, EI
中科院分区：
文献类型：
--
作者：
Shawaf, S;Noureddin, B;Traboulsi, EI
Six members of a family presented with a syndrome of mild facial dysmorphism, subluxation of the crystalline lenses,variable degrees of angle closure by iridocorneal adhesions, and patchy areas of iris atrophy. Three nonoperated eyes of two patients had spontaneous filtering blebs that presented as avascular cystic elevations of the superior conjunctiva. Systemic workup of all patients was negative for evidence of diseases known to be associated with dislocated lenses. The pedigree is most compatible with autosomal recessive inheritance with pseudodominance.
