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- W2033368412 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. © 2006 Wiley-Liss, Inc." @default.
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- W2033368412 date "2006-01-01" @default.
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- W2033368412 title "Blepharophimosis, corneal vascularization, deafness, and acroosteolysis: A “new” syndrome?" @default.
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- W2033368412 doi "https://doi.org/10.1002/ajmg.a.31543" @default.
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