Cytological findings of rhizomelic chondrodysplasia punctata: A rare skeletal dysplasia

Abstract

Chondrodysplasia punctata (CDP) is a rare, skeletal dysplasia characterized by stippled, punctuate calcifications around joints and within cartilages. A 4 months old female infant presented to us for aspiration cytology with clinical suspicion of sarcoma due to complaint of ankle swelling and failure to thrive. Fine needle aspiration (FNA) smears were acellular with only calcific deposits. On clinical co-relation depressed nose and frontal bossing were noted. We suspected it to be a case of congenital skeletal dysplasia. Plain X-ray of the lesion was ordered and it revealed stippled calcification in place of ankle bones consistent with chondrodysplasia punctata. The present case is an index case describing the cytology of chondrodysplasia punctata. CDP is mainly a radiologically diagnosed lesion, however the knowledge of its cytological picture through this case will make pathologists alike aware if they encounter such case. The management is basically supportive and rehabilitative.