Pfeiffer syndrome is a rare autosomal dominantly inherited disorder that associates craniosynostosis, broad and deviated thumbs and big toes, and partial syndactyly on hands and feet. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows, abnormal viscera, and slow development. Based on the severity of the phenotype, Pfeiffer syndrome is divided into three...

Cronkhite-Canada Syndrome (CCS) is a syndrome characterised by a constellation of signs including but not limited to onychodystrophy of the finger and toe nails, skin hyperpigmentation and alopecia. Endoscopic features showed hamartomatous polyps involving all segments of the gastrointestinal tract with the characteristic exception of being oesophageal sparring. These polyps show confirmation b...

Methylene blue is an intravenously administered agent that may potentiate serotonin syndrome. The usage of methylene blue to evaluate ureters for injuries and patency during urological surgeries is recognized as common practice. However, there is no mention of serotonin syndrome caused by methylene blue in urological literature or for urological surgery. We report the first urological case in o...

OBJECTIVES We sought to determine the incidence of cholesterol embolization syndrome (CES) as a complication of cardiac catheterization and to identify risk factors associated with this disease. BACKGROUND Cholesterol embolization syndrome is a systemic disease caused by distal showering of cholesterol crystals after angiography, major vessel surgery, or thrombolysis. METHODS We prospectively e...

A male Bedouin baby with the clinical profile of femoral hypoplasia-unusual facies syndrome is described. The phenotype includes bilateral asymmetrical lower limb hypoplasia/aplasia with short remnants of both femora, absent right tibia, bifid right big toe, dysmorphic facies, thoracic/pelvic abnormalities, macrophallus, and bilateral cryptorchidism. This report re-emphasises the previously des...