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Updated: May 11, 2026
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Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
Nanda Chhavi1, Sankar Prashanth, Chandrasekaran Venkatesh
1Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India.
Abstract:
A male neonate was born with rhizomelic shortening of limbs. Skeletal radiograph showed punctate calcification of epiphysis of humerus, femur, and tibia. The diagnosis and a brief review of literature pertaining to the condition with emphasis on antenatal diagnosis and counseling are being reported.
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