title: Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
abstract: We report on a patient with blepharophimosis who after unsuccessful surgery developed progressive corneal vascularization. The patient had conductive hearing loss, acroosteolysis of the phalanges, arthropathy, loss of subcutaneous fat of the hands, feet and face, and oligospermia. He had had spontaneous pneumothorax four times. We have found no similar case reports in the literature and suggest that this is a new syndrome, which must be differentiated from hereditary mucoepithelial dysplasia, mandibuloacral dysplasia, keratitis-ichthyosis-deafness syndrome, Hajdu-Cheney syndrome, Penttinen syndrome, and mucopolysaccharidoses.
authors.affiliation: Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark. Mette.Warburg@DADLNET.dk
authors.forename: Mette
authors.initials: M
authors.lastname: Warburg
authors.forename: Susanne
authors.initials: S
authors.lastname: Ullman
authors.forename: Hanne
authors.initials: H
authors.lastname: Jensen
authors.forename: Hans
authors.initials: H
authors.lastname: Pedersen
authors.forename: Takasi
authors.initials: T
authors.lastname: Kobayashi
authors.forename: Bjørn
authors.initials: B
authors.lastname: Russell
authors.forename: Lisbeth
authors.initials: L
authors.lastname: Tranebjaerg
authors.forename: Gabriele
authors.initials: G
authors.lastname: Richard
authors.forename: Karen
authors.initials: K
authors.lastname: Brøndum-Nielsen
mesh_terms: D030981:Acro-Osteolysis / Q000150:complications* / Q000235:genetics; D000328:Adult; D016569:Blepharophimosis / Q000150:complications* / Q000235:genetics; D003238:Connective Tissue / Q000473:pathology; D016510:Corneal Neovascularization / Q000150:complications* / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000150:complications / Q000235:genetics; D003937:Diagnosis, Differential; D004476:Ectodermal Dysplasia / Q000150:complications / Q000235:genetics; D006314:Hearing Loss, Conductive / Q000150:complications* / Q000235:genetics; D006801:Humans; D008297:Male; D009845:Oligospermia / Q000150:complications / Q000235:genetics; D013576:Syndactyly / Q000150:complications / Q000235:genetics; D013577:Syndrome