Description:
EHLERS-DANLOS SYNDROME: TYPE UNCLASSIFIED
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Disorders of Connective Tissue, Muscle, and Bone |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically affected; EDS, hypermobility type with characteristics of vascular type; hyperextensible, translucent velvety skin; widened atrophic scars; easy bruising and poor wound healing; fatty cysts (shins) and calcified hematomas (knees); premature aging of skin on hands and feet; tall and thin; large eyes; thin nose; receding gums; thin scalp hair; fatigue; joint hypermobility in arms and knees; recurrent joint sprains and dislocations; chronic joint pain; pes planus; clubfeet; muscle hypotonia; varicose veins; delayed motor skill development; anal prolapse; cervical insufficiency; mitral valve prolapse; bone spurs on spine and feet; same donor as GM19689 Fibroblast |
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