Research Article

Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

Table 1

Clinical characteristics of affected and unaffected family members.

Age
(years)
Beighton score (/9)Arthralgia(Sub) luxationCutaneousTendonitis, muscle crampsOtherStatus
CMPS >4 jointsCMPS 1–3 jointsEasy bruisingSoft skinSkin
hyperextensibility
Atrophic scarring/dilated scarsStriae

I.2755+Hip, TMJ, and sternoclavicular joint+++Hernia umbilicalis, postoperative haemorrhages, and fragility of internal organsA

II.1472+Ankles++U

II.2460NA

II.3456+++++Osteopenia, keratoconus, and muscle rupturesA

II.4445+Fingers, TMJ++++++Discus herniaA

II.5439+Generalized+++++A

II.6425+Generalized++++A

II.7363+Shoulders, wrists, and patella++++++A

II.8342+/−+U

II.9323Shoulder+++U

III.1240NA

III.2190NA

III.3190NA

III.4172+Patella+U

III.5152NA

III.6147Fingers, ankles++++A

III.7102NA

III.899+Wrist, toes+++Transparent skinA

III.962NA

III.10189+Fingers, patella+++++A

III.11116+++A

III.1297+++A

III.1372+/−+/−U

III.14119+Ankles+++A

III.15112NA

III.1676++A

CMSP: chronic musculoskeletal pain for >3 months.
TMJ: temporomandibular joint.
A: “affected,” NA: “not affected,” and U: “unknown.”
Age at last clinical evaluation.