Bilir B M, Bilir N, Wilson G N
Department of Internal Medicine, William Beaumont Hospital, Royal Oak, MI.
Am J Med Genet Suppl. 1990;6:69-72. doi: 10.1002/ajmg.1320370612.
Here we report on a 39-year-old woman with severe mental retardation, short stature, unusual face with prominent nose, broad thumbs, and broad first toes diagnostic of the Rubinstein-Taybi syndrome. Following admission because of headache and anorexia, a bifrontal lobe neoplasm was excised and diagnosed as an angioblastic meningioma. The unusual tumor and aged appearance of the patient add 2 facets to the natural history of Rubinstein-Taybi syndrome.