We present a case of a 35 year-old woman who had multiple bony fractures, short size, left xyphoescoliosis, blue sclerae, functional limitation of the hips, dentinogenesis imperfecta, severe osteoporosis and conduction hypoacusia. We review the types of osteogenesis imperfecta, clinical presentation, differential diagnosis, treatment and prognosis.

We present the case of a multiparous and obese woman of 59 years with partial hypopituitarism having an empty sella syndrome. We describe the clinical, radiological and biochemical findings. The diagnosis of empty sella was confirmed by computarized tomography. The levels of thyroxine, cortisol and growth hormone were decreased, with pituitary hyporresponsiveness to hypoglicemia induced with insulin. The replacement therapy was successful.

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Marfan’s syndrome is an autosomal dominant inheritance disorder that affects many body systems (skeletal, ocular, cardiovascular, cutaneous, pulmonary, abdominal, neurological). Marfan’s syndrome etiology is unknown, but recent genetic studies have linked this disorder to an extracellular microfibrillar defect located on chromosome 15q15-q21,3. Marfan’s syndrome characteristics require a multidisciplinary approach to patient care. We report a case of sporadic Marfan’s syndrome and review the clinical manifestations, the newly Ghent Criteria required for diagnosis, and management strategies, including follow-up, risk-factors modification, genetic counseling, and surgery in selected patients.