Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments: Diagnosis and Operative Management

一名患有多种骨科疾病的女性儿童被诊断为遗传性感觉和自主神经病II型:诊断和手术治疗

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Abstract

Hereditary Sensory and Autonomic Neuropathy (HSAN) Type II is an autosomal recessive genetic disease which presents predominantly with sensory neuropathy and neuropathic ulcers. HSAN Type II is a rare disease, and in the few cases that have been reported, the focus has been on identifying genetic markers of the disease. Orthopaedic conditions may be a major presentation of the disease, and the prevention of superficial trauma and foot care is the only definitive management.

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