Prenatal diagnosis of nail patella syndrome: A case report

Autor: L D Padmanabhan, D Yesodharan, S Nampoothiri
Jazyk: angličtina
Rok vydání: 2017
Předmět:
Zdroj: Indian Journal of Radiology and Imaging, Vol 27, Iss 03, Pp 329-331 (2017)
Druh dokumentu: article
ISSN: 0971-3026
1998-3808
DOI: 10.4103/ijri.IJRI_438_16
Popis: 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.
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