title: The EEC syndrome and its ocular manifestations.
abstract: The EEC syndrome (ectrodactyly or lobster-claw deformity, ectodermal dysplasia, and cleft lip and palate) is a rare disorder with autosomal dominant inheritance, variable expression, and in some families lack of penetrance. We present the findings in five cases with emphasis on the ocular findings. Lacrimal surgery was performed on three patients with good results in each case. We also report the occurrence of spontaneous corneal perforation in two cases, a complication not previously recognised. The ophthalmic care of these patients must be pursued long-term, as progressive visual impairment may be the most disabling feature of the syndrome.
authors.affiliation: Lacrimal Clinic, Moorfields Eye Hospital, London.
authors.forename: A A
authors.initials: AA
authors.lastname: McNab
authors.forename: M J
authors.initials: MJ
authors.lastname: Potts
authors.forename: R A
authors.initials: RA
authors.lastname: Welham
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D002648:Child; D002971:Cleft Lip / Q000235:genetics; D002972:Cleft Palate / Q000235:genetics; D003607:Dacryocystitis / Q000235:genetics; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D008297:Male; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*