Thrombocytopenia-absent radius syndrome: prenatal diagnosis of a rare syndrome

Radiol Bras. 2016 Mar/Abr;49(2):126–132 128 http://dx.doi.org/10.1590/0100-3984.2015.0063 found in males, at a ratio of 2–3:1, and can be diagnosed at any age. The pancake kidney malformation results from complete medial fusion of the metanephric blastema at an early stage of embryonic development and is characterized by a single, flat, nonreniform mass, in a medial position within the pelvic cavity or at the level of the aortic bifurcation. The renal collecting system is anterior and typically drains via two ureters or, less commonly, via a single ureter. The renal vasculature is also anomalous; blood flow can be supplied by multiple branches of the internal and external iliac arteries or of the abdominal aorta. In most cases, pancake kidney is asymptomatic but can be accompanied by nephrolithiasis, hydronephrosis, and vesicoureteral reflux resulting in recurrent urinary infections, all of which are attributable to the anomalous rotation of the collecting system and the short ureters, which are prone to stasis and obstruction, as well as by renovascular hypertension, ureteropelvic junction stenosis, anomalous implantation of the renal pelvis, and polycystic kidney disease. Among individuals with pancake kidney, the incidence of neoplasms, Wilms tumor in particular, is higher. A little more than 20 cases of pancake kidney have been described in the literature, and a single ureter was reported in fewer than 10 of those cases. Early identification of renal abnormalities is important to the investigation of associated conditions and for the differential diagnosis of pelvic masses, in order to preventing unnecessary injury or removal. Here, we have reported Renata Mendes da Silva, Moaci Ferreira de Morais Júnior, Francisco Edward Mont’Alverne Filho