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A rare lethal case of chondrodysplasia punctata with extensive airway involvement. | LitMetric

Stippled cartilaginous calcification, an important radiologic sign, is described as ''chondrodysplasia punctata'' when seen in association with limb shortening and maxillofacial hypoplasia. We report chondrodysplasia punctata in a male neonate who presented with limb shortening, midfacial hypoplasia, and laryngeal stenosis leading to death within a few minutes of birth. A post-mortem radiograph revealed generalized punctate calcification of cartilaginous structures, including airways, rib ends, spine, long bone epiphyses, tarsus and pinna, and brachytelephalangy.

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http://dx.doi.org/10.3109/15513815.2012.656826DOI Listing

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