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.

Detalles Bibliográficos
Autores principales: Chhavi, Nanda, Prashanth, Sankar, Venkatesh, Chandrasekaran, Karthikeyan, Kadirvel
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2012
Materias:
Brief Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656525/
https://www.ncbi.nlm.nih.gov/pubmed/23716944
http://dx.doi.org/10.4103/0971-6866.107990
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author Chhavi, Nanda
Prashanth, Sankar
Venkatesh, Chandrasekaran
Karthikeyan, Kadirvel
author_facet Chhavi, Nanda
Prashanth, Sankar
Venkatesh, Chandrasekaran
Karthikeyan, Kadirvel
author_sort Chhavi, Nanda
collection PubMed
description 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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spelling pubmed-36565252013-05-28 Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis Chhavi, Nanda Prashanth, Sankar Venkatesh, Chandrasekaran Karthikeyan, Kadirvel Indian J Hum Genet Brief Report 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. Medknow Publications & Media Pvt Ltd 2012 /pmc/articles/PMC3656525/ /pubmed/23716944 http://dx.doi.org/10.4103/0971-6866.107990 Text en Copyright: © Indian Journal of Human Genetics http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open-access article distributed under the terms of the Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Brief Report
Chhavi, Nanda
Prashanth, Sankar
Venkatesh, Chandrasekaran
Karthikeyan, Kadirvel
Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title_full Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title_fullStr Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title_full_unstemmed Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title_short Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis
title_sort rhizomelic chondrodysplasia punctata: a missed opportunity for early diagnosis
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3656525/
https://www.ncbi.nlm.nih.gov/pubmed/23716944
http://dx.doi.org/10.4103/0971-6866.107990
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AT karthikeyankadirvel rhizomelicchondrodysplasiapunctataamissedopportunityforearlydiagnosis

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