What is the Diagnosis?

MKL Wong; JLF Fung; BHY Chung

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What is the Diagnosis?

机译：什么是诊断？

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Our patient is a 28-year-old female who was referredto the Genetics Clinic for pre-marital counselling. Thepatient has generally good past health except she wasalways commented by her family doctor to have laxjoints and loose skin. Upon examination, patient wasnoted to have hyper-extensibility, laxed skin, easy bruising, poor wound healing and a history of contusion of knee. Apart from the above characteristics, her physical health is unremarkable. Her cervical smear is negative and family history is uncertain. She is planning to have an IVF and Preimplantation Genetic Diagnosis in the future.

机译：我们的患者是一名28岁的女性，被转诊至遗传学诊所进行婚前咨询。除了她的家庭医生总是评论说她的关节松弛和皮肤松弛之外，该患者过去的健康状况总体良好。检查时，患者被告知具有过度伸展性，皮肤松弛，容易瘀伤，伤口愈合不良和膝盖挫伤史。除了上述特征外，她的身体健康状况也不显着。她的宫颈涂片检查为阴性，家族史不确定。她计划在将来进行试管婴儿和植入前遗传学诊断。

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《Hong Kong Journal of Paediatrics》 |2018年第2期|共页
作者
MKL Wong; JLF Fung; BHY Chung;
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中图分类儿科学;
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