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Chiari 1 Malformation

History: 15 year old boy with headache and arm numbness. This is a case of a Chiari 1 malformation, which is is defined as caudal extension of the cerebellar tonsils 5 mm below the foramen magnum. Syringomyelia (syrinx) is seen in one-half of the patients, and it is not associated with other neurulation malformations. There are three main types … Continue reading

Osteogenesis Imperfecta

History: infant who died shortly after birth Osteogenesis imperfecta (OI), also known as brittle bone disease, is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue, or without the ability to make it, usually because of a deficiency of type I collagen. On … Continue reading

Breast Lipoma

History: 50 year old woman presenting for screening mammogram. This is a case of a breast lipoma. This is a benign tumor of the breast composed of mature adipose (fat) cells. They can be present in the breast, axilla, chest wall, or subcutaneous tissues, and typically appear circumscribed, oval or round. If they necrose, they … Continue reading

Retained Products of Conception

History: 35 year old female with vaginal bleeding after 1st trimester miscarriage.  This is a case of retained products of conception. Retained products of conception can occur after miscarriage, abortion, normal delivery, or after a dilatation and curretage procedure. Clinical examination and symptoms of retained products of conception are nonspecific and may mimic those that occur during the … Continue reading

Wilms’ Tumor

History: 3 year old male with palpable left sided abdominal mass Wilms’ tumor is the most common renal malignancy and solid abdominal malignancy of childhood. The median age of patients affected by Wilms’ tumor is 3 years old. Usually Wilms’ tumor presents as a large abdominal mass, and 10% of cases are bilateral. Wilms’ tumor … Continue reading

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