指甲髌骨综合征的产前诊断：一例报告

Prenatal diagnosis of nail patella syndrome: A case report.

作者信息

Padmanabhan L D, Yesodharan D, Nampoothiri S

机构信息

Division of Perinatology, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

Department of Paediatric Genetics, Amrita Institute of Medical Sciences and Research Centre, Kochi, Kerala, India.

出版信息

Indian J Radiol Imaging. 2017 Jul-Sep;27(3):329-331. doi: 10.4103/ijri.IJRI_438_16.

DOI:10.4103/ijri.IJRI_438_16

PMID:29089684

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5644329/

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.

摘要

指甲髌骨综合征（NPS）是一种常染色体显性结缔组织疾病，会影响指甲、骨骼系统、肾脏和眼睛。在此，我们报告一例在妊娠19周时检测出的指甲髌骨综合征病例。肘关节和膝关节活动受限，且膝关节存在旋转畸形。据我们所知，这是关于指甲髌骨综合征胎儿宫内肢体活动受限的首例报告。