Related Experiment Videos
von Voss-Cherstvoy syndrome with transient thrombocytopenia and normal psychomotor development
Nicola Brunetti-Pierri1, Roberto Mendoza-Londono, Maulik R Shah
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Abstract:
We report a 16-month-old patient with meningoencephalocele, absence of the radii, ambiguous genitalia, and transient neonatal thrombocytopenia. The phenotype strongly suggests the von Voss-Cherstvoy syndrome. Thrombocytopenia was present during the first 2 weeks of life and not found in subsequent determinations. This observation suggests that thrombocytopenia is a transient part of the syndrome. Among the patients reported so far our case appears to represent the mildest phenotype. Despite the neonatal complications and meningoencephalocele, the patient currently has normal psychomotor development.
Related Concept Videos
Disorders of Hemostasis
Thromboembolic Disorders
Two factors primarily cause thromboembolic conditions.
Disorders of Leukocytes
Leukopenia may result from bone marrow disorders, autoimmune diseases, and infectious diseases. For example, conditions such as multiple myeloma and aplastic anemia can impair the bone marrow's ability to produce adequate leukocytes. Similarly, autoimmune diseases like lupus and viral infections such as HIV can prompt the immune system...
Transient Ischemic Attack l: Introduction
Disorders of Erythrocytes
Erythrocyte disorders can be broadly categorized into two main types: anemic and polycythemic conditions.
A low oxygen-carrying capacity of the blood due to the loss, lower production, or destruction of erythrocytes is termed anemia. Hemorrhagic anemia, for example, occurs when bleeding from an external wound or internal ulcer reduces erythrocyte counts.
On the other...
Sex-linked Disorders
Hemorrhagic Stroke ll: Pathophysiology