Confirmation of the autosomal recessive syndrome of ectopia lentis and distinctive craniofacial appearance

✍ Scribed by Haddad, Randa ;Uwaydat, Sami ;Dakroub, Rola ;Traboulsi, Elias I.

• Book ID: 101320261
• Publisher: John Wiley and Sons
• Year: 2001
• Tongue: English
• Weight: 288 KB
• Volume: 99
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/1096-8628(2001)9999:9999<::aid-ajmg1156>3.0.co;2-v

✦ Synopsis

We report four members of a Lebanese Druze family with the syndrome of lens dislocation, spontaneous ®ltering 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 con®rm that this is a distinct autosomal recessive syndrome whose gene mutation is enriched in the Lebanese Druze community.