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Multiple endocrine neoplasia with skeletal manifestations
The Journal of Bone and Joint Surgery. American Volume
|March 1, 1981
Summary
Multiple endocrine neoplasia type 2b presents with skeletal anomalies and facial changes, including enlarged lips. Early recognition of these signs is crucial for diagnosing associated medullary thyroid carcinoma and pheochromocytoma.
Area of Science:
- Endocrinology
- Genetics
- Skeletal Dysplasias
Background:
- Familial multiple endocrine neoplasia (MEN) encompasses several genetic disorders.
- MEN type 2b is uniquely associated with significant skeletal abnormalities and distinct facial features.