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: Mette Warburg, Susanne Ullman, Hanne Jensen, Hans Pedersen, Takasi Kobayashi, Bjørn Russell, Lisbeth Tranebjaerg, Gabriele Richard, Karen Brøndum-Nielsen
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 140 Issue 24 Pg. 2709-13 (Dec 15 2006) ISSN: 1552-4825 [Print] United States
• PMID: 17103436 (Publication Type: Case Reports, Journal Article)
• Copyright: (c) 2006 Wiley-Liss, Inc.

Topics

• Acro-Osteolysis (complications, genetics)
• Adult
• Blepharophimosis (complications, genetics)
• Connective Tissue (pathology)
• Corneal Neovascularization (complications, genetics)
• Craniofacial Abnormalities (complications, genetics)
• Diagnosis, Differential
• Ectodermal Dysplasia (complications, genetics)
• Hearing Loss, Conductive (complications, genetics)
• Humans
• Male
• Oligospermia (complications, genetics)
• Syndactyly (complications, genetics)
• Syndrome