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Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?
Author(s) -
Warburg Mette,
Ullman Susanne,
Jensen Hanne,
Pedersen Hans,
Kobayashi Takasi,
Russell Bjørn,
Tranebjaerg Lisbeth,
Richard Gabriele,
BrøndumNielsen Karen
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31543
Subject(s) - blepharophimosis , medicine , conductive hearing loss , dermatology , dysplasia , hearing loss , phalanx , ophthalmology , surgery , pathology , audiology , ptosis
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. © 2006 Wiley‐Liss, Inc.