Abstract：
Ehlers-Danlos syndrome is a group of connective tissue disorders with 14 subtypes, involving joint hyperlaxity, tissue fragility, hypertensive skin and other systemic organs with an incidence of 1 in 1 000 000 worldwide. We report a middle childhood female born of second degree consanguineous marriage with limping gait with muscle weakness, with normal development and IQ. Examination revealed microcornea, distal joint laxity of fingers and wrist, hypotonia and broad-based limping gait. Fracture dislocation right hip was managed by fixation. With the atypical neuroimaging finding of cerebellar vermis hypoplasia, exome sequencing was ordered and confirmed as Ehlers-Danlos syndrome (musculocontractural type-1). Hence, genetic counselling was done and prognosis of the child was explained.
摘要：
Ehlers-Danlos综合征是一组结缔组织疾病，有14种亚型，涉及关节过度松弛，组织脆性,高血压皮肤和其他全身器官，全球发病率为1000000。我们报道了一名出生在二级近亲婚姻中的中年女性，步态缓慢，肌肉无力，正常发育和智商。检查显示微角膜，手指和手腕远端关节松弛，张力减退和广泛的跛行步态。右髋骨折脱位通过固定治疗。随着小脑疣发育不全的非典型神经影像学发现，我们下令进行外显子组测序,并确认为Ehlers-Danlos综合征(肌肉收缩-1型).因此，我们进行了遗传咨询,并解释了患儿的预后.
