Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance
Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance
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DOI：
10.1002/1096-8628(2001)9999:9999
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发表时间：
2001-03-15
期刊：
影响因子：
--
通讯作者：
Traboulsi, EI
中科院分区：
文献类型：
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作者：
Haddad, R;Uwaydat, S;Traboulsi, EI
We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous filtering blebs, anterior segment abnormalities, and a distinctive facial appearance. The constellation of clinical abnormalities in these patients is not suggestive of the Marfan syndrome or other connective tissue disorders associated with ectopia lentis, We previously described this syndrome in another presumably unrelated and highly inbred Druze family from the mountains of Lebanon, We postulated autosomal recessive inheritance in a pseudo-dominant pedigree, A few isolated reports of similar cases are scattered in the world literature. We now confirm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community. (C) 2001 Wiley-Liss,Inc.
