OBJECTIVE Robinow syndrome (RS) is an extremely rare genetic disorder characterized by short-limbed dwarfism, defects in vertebral segmentation and abnormalities in the head, face and external genitalia. Mutations in the ROR2 gene cause autosomal recessive RS (RRS) whereas mutations in WNT5A are responsible for the autosomal dominant (AD) form of RS. In AD… (More)
A 9-year-old boy presented with right upper abdominal pain and fever. The radiologic investigations revealed multiple cholangitic abscesses with cholangitis and worms in common bile duct. Endoscopic retrograde cholangio pancreatographic (ERCP) sphincterotomy, basketing, ballooning and extraction of Fasciola hepatica worms from the common bile duct were done.
Since the first report of fetal echocardiography in 1972 by Winsberg, several advances in ultrasound technology have occurred allowing detailed evaluation of cardiac anatomy in the second trimester fetus. Fetal echo is indicated in high risk pregnancies where the chances of fetus having a congenital heart disease (CHD) are likely to be high e.g., in fetus… (More)