Prenatal diagnosis of nail patella syndrome: A case report

Prenatal diagnosis of nail patella syndrome: A case report

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 de...

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Veröffentlicht in:The Indian journal of radiology & imaging 2017-07, Vol.27 (3), p.329-331
Hauptverfasser: Padmanabhan, L D, Yesodharan, D, Nampoothiri, S
Format: Artikel
Sprache:eng
Schlagworte:
Case reports
Case studies
Diagnosis
limited extension of elbow and knee joints
Musculoskeletal Radiology
Nail-patella syndrome
Prenatal diagnosis
rotational defect of knee joint
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Zusammenfassung: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.
ISSN:0971-3026
0970-2016
1998-3808
DOI:10.4103/ijri.IJRI_438_16