Prenatal diagnosis of nail patella syndrome: A case report

The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity o...

Descripción completa

Detalles Bibliográficos
Autores principales: Padmanabhan, L D, Yesodharan, D, Nampoothiri, S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2017
Materias:
Musculoskeletal Radiology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644329/
https://www.ncbi.nlm.nih.gov/pubmed/29089684
http://dx.doi.org/10.4103/ijri.IJRI_438_16
_version_ 1783271716090281984
author Padmanabhan, L D
Yesodharan, D
Nampoothiri, S
author_facet Padmanabhan, L D
Yesodharan, D
Nampoothiri, S
author_sort Padmanabhan, L D
collection PubMed
description The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS.
format Online
Article
Text
id pubmed-5644329
institution National Center for Biotechnology Information
language English
publishDate 2017
publisher Medknow Publications & Media Pvt Ltd
record_format MEDLINE/PubMed
spelling pubmed-56443292017-10-31 Prenatal diagnosis of nail patella syndrome: A case report Padmanabhan, L D Yesodharan, D Nampoothiri, S Indian J Radiol Imaging Musculoskeletal Radiology The Nail Patella Syndrome (NPS) is an autosomal dominant connective tissue disorder affecting the nails, skeletal system, kidneys and eyes. Here, we report a case of NPS detected at 19 weeks of gestation. The movements of the elbow and knee joints were restricted and there was rotational deformity of the knee joints. To our knowledge, this is the first report of in-utero restriction of limb movements in a fetus with NPS. Medknow Publications & Media Pvt Ltd 2017 /pmc/articles/PMC5644329/ /pubmed/29089684 http://dx.doi.org/10.4103/ijri.IJRI_438_16 Text en Copyright: © 2017 Indian Journal of Radiology and Imaging 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-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Musculoskeletal Radiology
Padmanabhan, L D
Yesodharan, D
Nampoothiri, S
Prenatal diagnosis of nail patella syndrome: A case report
title Prenatal diagnosis of nail patella syndrome: A case report
title_full Prenatal diagnosis of nail patella syndrome: A case report
title_fullStr Prenatal diagnosis of nail patella syndrome: A case report
title_full_unstemmed Prenatal diagnosis of nail patella syndrome: A case report
title_short Prenatal diagnosis of nail patella syndrome: A case report
title_sort prenatal diagnosis of nail patella syndrome: a case report
topic Musculoskeletal Radiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5644329/
https://www.ncbi.nlm.nih.gov/pubmed/29089684
http://dx.doi.org/10.4103/ijri.IJRI_438_16
work_keys_str_mv AT padmanabhanld prenataldiagnosisofnailpatellasyndromeacasereport
AT yesodharand prenataldiagnosisofnailpatellasyndromeacasereport
AT nampoothiris prenataldiagnosisofnailpatellasyndromeacasereport

Ejemplares similares