[A family with blepharophimosis, ptosis, epicanthus inversus and telecanthus. Occurrence of the hereditary marker in five generations].

Abstract:

: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.

journal_name

Klin Monbl Augenheilkd

authors

Kuckelkorn R,Reim M

doi

10.1055/s-2008-1045911

subject

Has Abstract

pub_date

1992-11-01 00:00:00

pages

325-9

issue

5

eissn

0023-2165

issn

1439-3999

journal_volume

201

pub_type

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