To cite: Prakash J, Swami V, Singh BP, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/ bcr-2013-200713 DESCRIPTION A 35-year-old man with no significant medical history presented with an 8-month history of dull pain in his right-lower abdomen. There was no relevant family history. Intravenous urography (IVU) was performed in a peripheral hospital (figure 1A–C)...

Focal dermal hypoplasia (FDH) is a rare inherited genodermatosis with an X-linked dominant trait. FDH is associated with skin defects and other abnormalities of bone, nails, hair, limbs, teeth and eyes. We present the case of a 26-year-old female in the 27th pregnancy week and a previous history of miscarriage. After careful physical examination and dermal biopsy, histopathology revealed that t...

Cleidocranial dysplasia or dysostosis (CCD) is a condition characterised by failure of membranous ossification resulting in absence or pseudarthrosis of the clavicle, open fontanelles, wormian bones and supernumerary teeth. The aetiology though not completely known is thought to be due to a CBFA1 (core binding factor activity 1) gene defect on the short arm of chromosome 6p21. CBFA1 is essentia...

Renal cell carcinoma associated with fused ectopic kidneys has rarely been reported in the literature. Here we report the first case of robot-assisted heminephrectomy for chromophobe renal cell carcinoma in an L-shaped fused ectopic kidney. The present case report highlights the importance of three-dimensional vision and enhanced maneuverability with the EndoWrist technology of the robotic surg...