Infantile free sialic acid storage disease presenting as non-immune hydrops fetalis

• Main Authors: Yaser Elsaba (Author), Anwar Khan (Author), Mahmoud Galal (Author), Lakshmiprabha Lakshmanadoss (Author), Mostafa Bolkini (Author)
• Format: Knjiga
• Izdano: Hygeia Press di Corridori Marinella, 2019-01-01T00:00:00Z.
• Teme: article
• Online dostop: Connect to this object online.

A preterm, 33 weeks of gestational age, was antenatally diagnosed with hydrops fetalis. There is positive family history of two early neonatal death of unknown cause on his maternal side. He had generalized edema, massive ascites, blonde hair, unexpectedly fair skin, coarse facies, telangiectasia ov...