Open AccessPrenatal diagnosis of nail patella syndrome: A case report
Author(s) -
Laxmi Devi Padmanabhan,
Dhanya Yesodharan,
Sheela Nampoothiri
Publication year - 2017
Publication title -
indian journal of radiology and imaging - new series/indian journal of radiology and imaging/indian journal of radiology and imaging
Language(s) - English
Resource type - Journals
eISSN - 0971-3026
pISSN - 0970-2016
DOI - 10.4103/ijri.ijri_438_16
Subject(s) - medicine , nail (fastener) , elbow , patella , deformity , in utero , anatomy , connective tissue , fetus , surgery , pregnancy , pathology , materials science , genetics , biology , metallurgy
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.