Connective Tissue Disorders
A 14-year-old girl presents with recurrent shoulder dislocations, chronic joint pain, and easy bruising. She has a Beighton score of 8/9 and reports that her mother and sister have similar problems. Examination reveals soft, velvety skin with hyperextensibility, wide atrophic scars on her knees, and generalized joint hypermobility. She has normal echocardiography. Regarding Ehlers-Danlos syndrome classification and diagnosis:
Mark each as TRUE or FALSE
Ehlers-Danlos syndrome (EDS) encompasses a heterogeneous group of heritable connective tissue disord...
The Beighton score assesses generalized joint hypermobility on a 0-9 scale; a score of 5 or more in ...
Classical EDS (cEDS) presents with marked skin hyperextensibility, atrophic scarring, and easy bruis...
Vascular EDS (vEDS) is the most common subtype and presents primarily with joint hypermobility; it h...
Hypermobile EDS (hEDS) is the only EDS subtype without a known genetic marker; diagnosis is clinical...
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Click T (True) or F (False) for each option