Clinical, ultrastructural and biochemical studies in two sibs with Ehlers-Danlos syndrome type VI-B-like features.
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.
Oğur
G
G
GATA Medical Faculty, Department of Medical Genetics, Etlik, Ankara, Turkey.
Baykan
N
N
De Paepe
A
A
Steinmann
B
B
Quatacker
J
J
Kuseyrí
F
F
Yüksel-Apak
M
M
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
D006901:Hydroxylysine; D003094:Collagen; D004549:Elastin