We report the case of a 10-year-old boy with typical manifestation of Hajdu-Cheney syndrome. MRI demonstrated syringohydromyelia involving almost the entire spinal cord, although neurological symptoms had not yet developed. Syringohydromyelia is considered to be a sequel to progressive basilar invagination and is one of the essential features of this rare osteolytic bone dysplasia.
KeywordsPublic Health Spinal Cord Neurological Symptom Essential Feature Typical Manifestation
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