BRIEF REPORT |
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Year : 2012 | Volume
: 18
| Issue : 3 | Page : 344-345 |
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Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
Nanda Chhavi, Sankar Prashanth, Chandrasekaran Venkatesh, Kadirvel Karthikeyan
Department of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry, India
Correspondence Address:
Chandrasekaran Venkatesh Assistant Professor of Pediatrics, Mahatma Gandhi Medical College and Research Institute, Pillaiyarkuppam, Puducherry - 607 402 India
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DOI: 10.4103/0971-6866.107990
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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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