The clinical features of Ehlers-Danlos syndrome type VII due to a deletion of 24 amino acids from the pro alpha 1(I) chain of type I procollagen.
The clinical features and progress of a child with the type VII form of Ehlers-Danlos syndrome due to a deletion in the pro alpha 1(I) of type I procollagen were studied. The child was born with bilateral dislocations of hips and knees and all other joints were markedly hypermobile. Persistent severe joint instability was the major clinical abnormality. She had a depressed nasal bridge with prominent paranasal folds and deeply set eyes with mild hypertelorism and micrognathia. The skin was soft, moderately hyperelastic, and sagged over the face and knees. Skin fragility and easy bruising appeared when she started walking. Electron microscopy of the dermis showed irregular collagen fibrils.
Department of Paediatrics, University of Melbourne, Australia.
W G
WG
Cole
R
R
Evans
D O
DO
Sillence
D000595:Amino Acid Sequence; D000596:Amino Acids / Q000378:metabolism*; D002675:Child, Preschool; D003094:Collagen / Q000378:metabolism; D003238:Connective Tissue / Q000378:metabolism; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006580:Genetic Carrier Screening; D006618:Hip Dislocation, Congenital / Q000175:diagnosis; D006801:Humans; D010446:Peptide Fragments / Q000378:metabolism*; D011347:Procollagen / Q000378:metabolism*; D012867:Skin / Q000378:metabolism
D000596:Amino Acids; D010446:Peptide Fragments; D011347:Procollagen; D003094:Collagen