Abstract
Chondrodysplasia punctata (CDP) is a group of congenital bone and cartilage disorders. Laryngeal and tracheal calcification and subsequent stenosis are not frequently seen. We report here a case of an infant with CDP associated with tracheal stenosis.
Highlights
Calcification of the airways is rare in children [1]
Decannulation rates are low and death rates are high in severe airway stenosis [3]
We here describe a neonate with severe airway stenosis and typical radiological and facial stigmata of chondrodysplasia punctata (CDP)
Summary
Calcification of the airways is rare in children [1]. It can be idiopathic or from known causes [1,2]. Tracheal calcification, and stenosis are associated infrequent finding [3]. CDP is essentially a radiological diagnosis; the cartilage stippling commonly involves epiphyseal end plates [1,2]. We here describe a neonate with severe airway stenosis and typical radiological and facial stigmata of CDP. Humeral epiphyses showed stippled calcifications; the long bones were normal (Figure 1b). The patient had a long course in the hospital with several failed decannulation attempts. He succumbed to ventilator-associated pneumonia and sepsis. Genetic studies for confirmation of diagnosis have not been attempted as the caretakers denied the same, due to cost issues
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