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Egyptian Journal of Medical Human Genetics

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Corpus callosum defect with dilated lateral ventricles and an occipital cyst in an Egyptian child with Diamond-Blackfan anemia

R Shawky, N El-Sayed

Abstract


Diamond-Blackfan anemia (DBA), an inherited bone marrow failure syndrome characterized by anemia that usually presents before the first birthday or in early childhood, is associated with birth defects and an increased risk of cancer. Although anemia is the most prominent feature of DBA, the disease is also characterized by growth retardation and congenital malformations, in particular craniofacial, upper limb, heart, and urinary system defects that are present in approximately 30%-50% of patients. Herein, we present a patient with Diamond-Blackfan anemia associated craniofacial anomalies, pyramidal manifestations and corpus callosum defect and dilated lateral ventricles opening with each other and opening with a posterior occipital cyst, an association that to date has not been reported.

Key Words: Diamond-Blackfan anemia, corpus callosum, dilated ventricles, occipital cyst.




AJOL African Journals Online