Diencephalic-mesencephalic junction dysplasia: a novel recessive brain malformation
1 Department of Clinical Genetics, Division of Human Genetics and Genome Research, National Research Centre, Cairo 12311, Egypt 2 Department of Radiology, Cairo University, Cairo, Egypt 3 Department of Paediatrics, Seattle Children’s Research Institute,
Genetics Home Reference: Fanconi anemia
Fanconi anemia is a condition that affects many parts of the body. People with this condition may have bone marrow failure, physical abnormalities, organ defects, and an increased risk of certain cancers. The major function of bone marrow is to produce n
Saving Grace
Addison Lennon met all her early milestones: she sat up on time, crawled on time and walked on time. At about 4 months, however, she had a seizure, and her parents started to worry. By 9 months, her head appeared small for her age. Her neurologist reassured the family that Addison could still be within the lowest 5 percent of the normal range. "We were thinking she was typical," says Kari Lennon, "she would be in that 5 percent." At 15 months, however, Addison had another seizure that was a lot more severe. She had been tested for
The Foundation for Children with Microcephaly
The Foundation for Children with Microcephaly is the only 501(c)(3) nonprofit organization in the United States dedicated to helping children and adults diagnosed with Microcephaly, Polymicrogyria, Lissencephaly and other closely related neurological disorders often get overlooked as well.
