Kuckelkorn R, Reim M
Augenklinik, Medizinischen Fakultät der RWTH Aachen.
Klin Monbl Augenheilkd. 1992 Nov;201(5):325-9. doi: 10.1055/s-2008-1045911.
The condition with blepharophimosis, ptosis, epicanthus inversus and telecanthus is reported in one family over five generations. The syndrome is transmitted as an autosomal-dominant characteristic with a very high penetrance and expressivity, preferentially affecting and being transmitted by males. Affected females were infertile. There were no other accompanying systemic disorders. A three-year-old boy, who develops deprivation amblyopia, was first treated by levator attachment according to Friedenwald's method. Medical canthal surgery followed two years later to correct the epicanthus and telecanthus. A good clinical result was achieved by performing Mustardè's Z-plasty and shortening of the medial canthal ligament. Alternative techniques are reviewed briefly.
一个家族五代人中出现了睑裂狭小、上睑下垂、内眦赘皮和眦距增宽的病症。该综合征以常染色体显性特征遗传，具有很高的外显率和表现度，男性更易受影响且更易遗传。患病女性不育。无其他伴随的全身性疾病。一名患有剥夺性弱视的三岁男孩，首先按照弗里登瓦尔德方法进行提上睑肌附着术治疗。两年后进行内眦手术以矫正内眦赘皮和眦距增宽。通过施行穆斯塔德Z成形术和缩短内眦韧带取得了良好的临床效果。简要回顾了其他替代技术。
