title: 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.
authors.affiliation: Department of Pediatrics, University College of Medical Sciences (UCMS), Delhi, India. poojadewan@hotmail.com
authors.forename: Pooja
authors.initials: P
authors.lastname: Dewan
authors.forename: Anuradha
authors.initials: A
authors.lastname: Rai
authors.forename: Natasha
authors.initials: N
authors.lastname: Gupta
authors.forename: Dheeraj
authors.initials: D
authors.lastname: Shah
authors.forename: M M A
authors.initials: MM
authors.lastname: Faridi
mesh_terms: D002806:Chondrodysplasia Punctata / Q000473:pathology*; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male