A Rare Lethal Case of Chondrodysplasia Punctata with Extensive Airway Involvement

Abstract

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.

Keywords :

• chondrodysplasia punctata
• laryngeal stenosis
• mid-facial hypoplasia
• punctate calcification