| Literature DB >> 12370128 |
Ahmet Akar1, Davut G l, Zeyir Erdem, Padmini Sarathchandra, Carolyn Tysoe, Mike Pope.
Abstract
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.Entities:
Mesh:
Year: 2002 PMID: 12370128
Source DB: PubMed Journal: Eur J Dermatol ISSN: 1167-1122 Impact factor: 3.328