Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: a "new" syndrome?
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.
Warburg
Mette
M
Department of Pediatric Ophthalmology and Handicap, Copenhagen University Hospital, Glostrup, Denmark. Mette.Warburg@DADLNET.dk
Ullman
Susanne
S
Jensen
Hanne
H
Pedersen
Hans
H
Kobayashi
Takasi
T
Russell
Bjørn
B
Tranebjaerg
Lisbeth
L
Richard
Gabriele
G
Brøndum-Nielsen
Karen
K
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