China’s ‘folded man’ finds happiness and hope after life-changing surgery

Li has an autoimmune disease called ankylosing spondylitis that started when he was 18. It can cause bones to fuse, making the spine curve forward. His condition worsened over time until he was completely bent over, with three parts of his body “connected” – his chin to his chest, his breastbone to his pubic bone, […]

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A Case of Aplasia Cutis Congenita Type VI: Bart Syndrome

Yasmin Alfayez, Sahar Alsharif,* and Adel Santli Case Report A 4-h-old male newborn presented with complete absence of skin over the anteromedial aspect of both lower legs since birth. The baby was born to a 23-year-old primigravida mother via normal vaginal delivery. Both pregnancy and delivery were uncomplicated. The mother denied any history of exposure to medications or […]

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Spontaneous Coronary Artery Dissection: A Rare Manifestation of Alport Syndrome

Amornpol Anuwatworn, * Prince Sethi, Kelly Steffen, Orvar Jonsson, and Marian Petrasko Abstract Alport syndrome (AS) is a genetic disorder due to inheritance of genetic mutations which lead to production of abnormal type IV collagen. AS has been associated with renal, auditory, and ocular diseases due to the presence of abnormal alpha chains of type IV collagen in the glomerulus, cochlea, […]

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A Rare Syndrome of Five Finger Hands and Polydactyly of the Feet: A Case Report

Ahmadreza Afshar Case report A 22-year old man was referred from the Welfare Organization for evaluation of his hands and feet abnormalities. The family history was negative for any congenital abnormalities. The parents were non-consanguineous. It seemed that the hands and feet deformities were symmetric. The right and the left thumbs were absent (Figs. 1 […]

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End-Stage Autosomal Dominant Polycystic Kidney Disease

Figure 1 A 45-year-old man with autosomal dominant polycystic kidney disease presented to the urology clinic for consideration of bilateral nephrectomy as treatment for severe abdominal pain and distention. Magnetic resonance imaging of the abdomen (Panel A) demonstrated profound enlargement and complete replacement of the liver (top arrow) and kidneys (lower arrows) by cysts. A bilateral […]

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