| 英文摘要 |
We present a 13-year-old girl with the chief complaint of loose joints around extremities. She didn’t complain of recurring joint dislocations, subluxations, chronic joint pain and positive family history. Easy bruising was reported but recovery soon. There are also no complaints of functional bowel dysfunction, and autonomic dysfunction or hypotension. On physical examination, she was 162.8 cm high, weighed 52.2 Kg, and her arm span was 173.5 cm long (arm span-to-height >1.05). The musculoskeletal examination revealed normal strength in all extremities. Joints were examined for hypermobility using the Beighton scale criteria. The patient scored a 9/9: bilateral fifth digit passively extended to 90°(Fig.1a), bilateral thumb opposable to the forearm (Fig.1b), bilateral elbow extension past 10°(Fig.1c), and passive hyperextension of the knee beyond 10° (Fig.1d). She was able to palm the floor (Fig.1e) and the integumentary examination revealed soft, velvety skin with the skin hyperextensibility above 1.5 cm (Fig.1f). There was no nose, ears or gingival abnormality, no ecchymosis, no bruising and without obvious scar on exam. Chest x ray, abdomen and cardiac echography revealed no vascular abnormality, such as aortic root dilatation. The patient was referred to ophthalmic clinic exam which revealed myopia only. The patient was given a clinical diagnosis of Ehlers–Danlos syndrome hypermobility type based on fulfilment of three criteria of 2017 international classification and exclusion of other heritable, acquired connective tissue disorder, or neuromuscular disorders. 1 The presentation of Ehlers–Danlos syndrome hypermobility type can be vague and clinician should be alert in patients with joint instability or loose joints. |
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