title: [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.
authors: Augenklinik, Medizinischen Fakultät der RWTH Aachen.
authors: R
authors: R
authors: Kuckelkorn
authors: M
authors: M
authors: Reim
mesh_terms: D016569:Blepharophimosis / Q000235:genetics* / Q000601:surgery; D001763:Blepharoptosis / Q000235:genetics* / Q000601:surgery; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D005141:Eyelid Diseases / Q000235:genetics* / Q000601:surgery; D005500:Follow-Up Studies; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D010375:Pedigree; D012086:Reoperation; D013536:Suture Techniques
vernacular_title: Uber eine Familie mit Blepharophimose, Ptosis, Epikanthus inversus und Telekanthus. Auftreten des hereditären Merkmals über fünf Generationen.