Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic disorder characterized by skeletal deformities such as acroosteolysis, osteoporosis, unique craniofacial features, and other systemic abnormalities. This syndrome is caused by NOTCH2 gene mutations, which cause an increase of osteoclast and osteoblast activity that leads to the increased bone resorption. Because of how rare the syndrome is and the vague onset of the symptoms, it can be challenging to make an early diagnosis.
View Article and Find Full Text PDFRudimentary horn pregnancy has concerns due to the high incidence of an extreme risk of a life-threatening rupture. Thus, early diagnosis and management are essential to preserving the patient's life. We present a successful diagnosis and management of a prerupture rudimentary horn pregnancy in a 24-year-old woman presented with chronic pelvic pain and amenorrhea for the last 3 months.
View Article and Find Full Text PDFAnn Med Surg (Lond)
December 2020
Introduction: Myxofibrosarcoma (MFS) is a rare subtype of a malignant soft tissue tumor that occurs mainly in adults, and peaks at the age of 70. It typically presents as a slow growing, painless mass in the proximal part of the extremities. It is characterized with a high recurrence rate and a low rate of distant metastases; the most common metastases site is the lungs, and in some extremely rare cases it was mentioned that there was metastases to the head and neck region.
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