Ultrasound Detection of Holt Oram Syndrome in Early Pregnancy – A Case Report
Journal Title: International Journal of Medical Science And Advanced Clinical Research (IJMACR) - Year 2018, Vol 1, Issue 4
Abstract
Holt Oram Syndrome (HOS) is a rare genetic syndrome characterized by upper extremity deformities and congenital heart defects, and other cardiac conduction disturbances with or without septal defects. It is inherited in an autosomal dominant pattern, characterized by high penetrance and variable expression. We describe a case, where we prenatally diagnosed HOS associated with cardiomegaly. On autopsy, left kidney was absent. To the best of our knowledge, the prenatal diagnosis of HOS with cardiomegaly and single kidney has not been reported in the literature before.
Authors and Affiliations
Pritti K. P Priya
Keywords
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