Situs Inversus Totalis With Cystic Dysplasia Of Kidneys And Pancreas

Balci et al. (1999) described sib fetuses in which prenatal diagnosis was made of situs inversus totalis with cystic dysplasia of the kidneys and pancreas. One fetus was female and one male. They suffered from severe cystic dysplasia of the kidneys and pancreas with no abnormality of the liver and also showed situs inversus, bowing of the lower limbs and clavicles, severe intrauterine growth retardation, and oligohydramnios. The parents were first cousins and had no cysts of kidney, liver, or pancreas detected by ultrasonography. This syndrome differs from that described by Ivemark et al. (1959) because of the presence of situs inversus totalis and the absence of hepatic fibrosis and cysts; see 263200. Balci et al. (2000) reported the prenatal diagnosis of pancreatic and dysplastic renal cysts in a third affected member of this family. The third affected sib was female.