[Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].
Two children born on Crete of consanguinous parents presented the following manifestations of the ocular type of Ehlers-Danlos syndrome (EDS): blue sclerae, keratoglobus and rupture of cornea following minor trauma. In cultivated fibroblasts of one of the patients there was no evidence of defective lysine hydroxylation. The possible relation of our case to a recent similar report by Judisch et al. (1976) is discussed. The ocular type of EDS may be genetically heterogenous. Provisionally, we propose for cases with normal lysyl hydroxylation in vitro the term 'type VIII of EDS'.
D002648:Child; D003241:Consanguinity; D003315:Cornea; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D005128:Eye Diseases / Q000235:genetics; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis; D010375:Pedigree; D012590:Sclera
Blaue-Sklera-Syndrom und Keratoglobus (oculärer Typ des Ehlers-Danlos-Syndroms).