title: Acrogeric Ehlers-Danlos syndrome type IV: report of a new patient with additional findings.
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.
authors.affiliation: Dept. of Dermatology, G lhane Military Medical Academy, School of Medicine, 06018 Ankara, Turkey. aakar@gata.edu.tr
authors.forename: Ahmet
authors.initials: A
authors.lastname: Akar
authors.forename: Davut
authors.initials: D
authors.lastname: G l
authors.forename: Zeyir
authors.initials: Z
authors.lastname: Erdem
authors.forename: Padmini
authors.initials: P
authors.lastname: Sarathchandra
authors.forename: Carolyn
authors.initials: C
authors.lastname: Tysoe
authors.forename: Mike
authors.initials: M
authors.lastname: Pope
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D000169:Acrodermatitis / Q000150:complications / Q000175:diagnosis*; D000328:Adult; D001707:Biopsy, Needle; D004535:Ehlers-Danlos Syndrome / Q000150:complications / Q000175:diagnosis*; D005500:Follow-Up Studies; D005532:Foot Deformities, Congenital / Q000150:complications / Q000175:diagnosis*; D005901:Glaucoma / Q000150:complications / Q000175:diagnosis*; D006228:Hand Deformities, Congenital / Q000150:complications / Q000175:diagnosis*; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008854:Microscopy, Electron; D018570:Risk Assessment