Blepharophimosis syndrome (the syndrome of blepharophimosis, blepharoptosis and epicanthus inversus).
The syndrome of blepharophemosis, blepharoptosis and epicanthus inversus is described in a female neonate who was admitted to the Ethio-Swedish Children's Hospital (ESCH) in Jan 1996 at birth. The clinical features and mode of transmission of the syndrome is discussed.
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Ethio-Swedish Children's Hospital, Department of Paediatrics and Child Health, Faculty of Medicine, Addis Ababa University.
D016569:Blepharophimosis / Q000175:diagnosis* / Q000235:genetics; D001763:Blepharoptosis / Q000209:etiology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome