Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"


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Abstract
Abstract

EEC-Syndrome (Ectrodactyly-ectodermal Dysplasia-clefting)

Lang M., Ungerechts R., Emmerich K. H.
Ophthalmic hospital Darmstadt

Purpose: The EEC-Syndrome is defined as a multiple congenital anomaly syndrome which follows an autosomal-dominant pattern of inheritance characterized by ectodermal dysplasia, distal limb anomaly, cleft lip/ palate and duct anomalies.
Method: Patients: Father aged 38 years and son aged 7 months were referred to our clinic because of atresia of he lacrimal duct system with epiphora, ectrodactylie of the fingers and toes, duct anomalies of the renal system and the father with palate-clefting. No additional ophthalmological findings in both patients.
Results: Discussion: The father shows the full clinical picture of the EEC-syndrome. Except of the upper canaliculus of the left eye there was an atresia of the lacrimal drainage system. The son showed a complete atresia of the lacrimal drainage system. Both are complaining about epiphora since the early childhood.
Conclusions: Epiphora and secondary inflammation due to atresia of the lacrimal system should be treated by early dacryorhinostomy or conjunctivorhinostomy, through which the development of corneal scars can perhaps be delayed.


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