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Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis

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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Detalhes bibliográficos
Main Authors: Chhavi, Nanda, Prashanth, Sankar, Venkatesh, Chandrasekaran, Karthikeyan, Kadirvel
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3656525/
https://ncbi.nlm.nih.gov/pubmed/23716944
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/0971-6866.107990
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