TY - JOUR
T1 - Hereditary Sensory and Autonomic Neuropathy Type II in a Female Child with Multiple Orthopaedic Ailments
T2 - Diagnosis and Operative Management
AU - Kamath, Surendra U.
AU - Krishnamurthy, Sunil Lakshmipura
AU - Annappa, Rajendra
N1 - Publisher Copyright:
© 2022, Indian Orthopaedics Association.
PY - 2022/8
Y1 - 2022/8
N2 - 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.
AB - 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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U2 - 10.1007/s43465-022-00671-y
DO - 10.1007/s43465-022-00671-y
M3 - Article
AN - SCOPUS:85132697174
SN - 0019-5413
VL - 56
SP - 1482
EP - 1487
JO - Indian Journal of Orthopaedics
JF - Indian Journal of Orthopaedics
IS - 8
ER -