Craniometaphyseal dysplasia with obvious biochemical abnormality and rickets-like features.

Abstract excerpt

BACKGROUND: Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that is characterized by progressive sclerosis of the craniofacial bones and metaphyseal widening of long bones, and biochemical indexes were mostly normal. To further the understanding of the disease from a biochemical perspective, we reported a CMD case with obviously abnormal biochemical indexes. CASE REPORT: A 1-year-old boy was referred...

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