Factor VII deficiency-related recurrent hemarthrosis in a female child – When to suspect?

Jaundice and factor VII deficiency in newborn

Resistance to thyroid hormone is an uncommon condition. We report the clinical and laboratory findings of a case with both resistance to thyroid hormone and, a reduced capacity to produce and respond to thyroid hormone. RTH is a disorder characterized by elevated circulating thyroid hormones, state of non-suppressed pituitary TSH secretion and refractoriness to hormone action in peripheral tiss...

Recurrent Venous Thromboembolic Events in a Child with Severe Factor X Deficiency

Congenital factor X deficiency is a rare autosomal recessive bleeding disorder that presents with variable bleeding tendency and prolonged coagulation tests, prothrombin time, and partial thromboplastin time. Thromboembolic events have not been reported in patients with factor X deficiency yet. Herein, we report a patient with factor X deficiency who had recurrent venous thromboembolic events.

Anterior segment dysgenesis in a child with factor VII deficiency

PURPOSE To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia). METHOD A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal ble...

PRIMARY IMMUNE DEFICIENCY: When to suspect and what to do

For the last 50 years immune deficiency disorders were thought to be rare occurring in one out of thousands of infants. Indeed in the last 10 years with the development of new genetic techniques more than 100 mutations in various genes were found to be associated with primary immunodeficiencies entities. It should be noted that in some diseases several hundreds of patients were found, while in ...

Inherited factor VII deficiency