Chondrodysplasia Punctata with Severe Airway Stenosis

点状软骨发育不良伴严重气道狭窄

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Abstract

Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias characterized primarily by punctate calcifications in cartilage. It is a rare disease with an incidence of 1:100,000 live births. Extensive airway involvement with calcification of tracheal, bronchial, and thyroid cartilage in CDP is an infrequent finding. We aim to report a case of CDP with characteristic radiological features and severe airway involvement.

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