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 Printable version |
Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings |
European Journal of Dermatology. Volume 12, Number 5, 428-31, September - October 2002, Gènes et peau
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 Free Article
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Author(s) : Ahmet AKAR, Davut GÜL, Üzeyir ERDEM, Padmini SARATHCHANDRA, Carolyn TYSOE, Mike POPE |
Summary : We report a 21 year-old Turkish male with acrogeric Ehlers-Danlos syndrome type IV, a rare autosomal dominant disorder. In addition to the usual findings, the patient also had glaucoma and some unusual skeletal features including impressio digitalis in the skull, prognathism of the lower jaw and maxiller hypoplasia, not previously described as part of acrogeric Ehlers-Danlos syndrome type IV. These features expand the phenotypic spectrum of acrogeric Ehlers-Danlos syndrome type IV. |
Keywords : Ehlers-Danlos syndrome type IV, acrogeria, COL3A1, glaucoma, skeletal abnormalities. |
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