Literature DB >> 22413868

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

Pooja Dewan1, Anuradha Rai, Natasha Gupta, Dheeraj Shah, M M A Faridi.   

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.

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Year:  2012        PMID: 22413868     DOI: 10.3109/15513815.2012.656826

Source DB:  PubMed          Journal:  Fetal Pediatr Pathol        ISSN: 1551-3815            Impact factor:   0.958


  1 in total

1.  Chondrodysplasia Punctata with Severe Airway Stenosis.

Authors:  Bobbity Deepthi; Viswas Chhapola; Sandeep Kumar Kanwal; Ankita Goel Sharma; Virendra Kumar
Journal:  Indian J Crit Care Med       Date:  2018-07
  1 in total

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