title: Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features.
abstract: Two Turkish sibs with clinical features of Ehlers-Danlos syndrome type VI-B are presented. The hydroxylysine contents of dermis and gel electrophoresis of type I and type III collagen produced by fibroblasts were normal. Ultrastructural studies of skin collagen and elastic fibers showed discrete abnormalities. Other syndromes with similar clinical, biochemical and ultrastructural features are discussed.
authors.affiliation: GATA Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey.
authors.forename: G
authors.initials: G
authors.lastname: Oğur
authors.forename: N
authors.initials: N
authors.lastname: Baykan
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: B
authors.initials: B
authors.lastname: Steinmann
authors.forename: J
authors.initials: J
authors.lastname: Quatacker
authors.forename: F
authors.initials: F
authors.lastname: Kuseyrí
authors.forename: M
authors.initials: M
authors.lastname: Yüksel-Apak
mesh_terms: D002675:Child, Preschool; D003094:Collagen / Q000648:ultrastructure; D003937:Diagnosis, Differential; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis / Q000378:metabolism / Q000473:pathology*; D004549:Elastin / Q000648:ultrastructure; D005124:Eye Abnormalities / Q000175:diagnosis; D005260:Female; D005347:Fibroblasts / Q000648:ultrastructure; D006801:Humans; D006901:Hydroxylysine / Q000378:metabolism; D007223:Infant; D007593:Joint Instability / Q000175:diagnosis; D008297:Male; D010375:Pedigree; D012590:Sclera / Q000002:abnormalities; D012600:Scoliosis / Q000175:diagnosis; D012867:Skin / Q000737:chemistry / Q000378:metabolism / Q000473:pathology
chemical_list: D006901:Hydroxylysine; D003094:Collagen; D004549:Elastin