Indian Journal of Human Genetics
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BRIEF REPORT
Year : 2012  |  Volume : 18  |  Issue : 3  |  Page : 344-345

Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis


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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Source of Support: None, Conflict of Interest: None


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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