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Abstract #8477 Published in IGR 5-1
Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings
Akar A; Gul D; Erdem Z; Sarathchandra P; Tysoe C; Pope MEuropean Journal of Dermatology 2002; 12: 428-431
The authors report on 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.
Dr. A. Akar, Department of Dermatology, Gulhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey. aakar@gata.edu.tr
Classification:
9.4.15 Glaucoma in relation to systemic disease (Part of: 9 Clinical forms of glaucomas > 9.4 Glaucomas associated with other ocular and systemic disorders)
