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CC BY-NC-ND 4.0 · Indian J Radiol Imaging 2017; 27(03): 329-331
DOI: 10.4103/ijri.IJRI_438_16
Musculoskeletal Radiology

Prenatal diagnosis of nail patella syndrome: A case report

L D Padmanabhan
Division of Perinatology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
,
D Yesodharan
Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
,
S Nampoothiri
Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India
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Abstract

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.

Keywords

Limited extension of elbow and knee joints - nail patella syndrome - rotational defect of knee joint


Publication History

Article published online:
27 July 2021

© 2017. Indian Radiological Association. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/).

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