3 rezultatet
The author recently examined four children of clinical macrocephaly. Their occipitofrontal head circumference was exceeded 2 standard deviations above the mean for chronological age. Megalencephaly with normal ventricular system was proved by computerized tomography or pneumoencephalography. The
We report on a patient with a contiguous interstitial germline deletion of chromosome 10q23, encompassing BMPR1A and PTEN, with clinical manifestations of juvenile polyposis and minor symptoms of Cowden syndrome (CS) and Bannayan-Riley-Ruvalcaba syndrome (BRRS). The patient presented dysmorphic
A child with macrocephaly-cutis marmorata developed severe abdominal pain thought to represent mesenteric angina. There were abnormalities of the aortic and mesenteric vasculature not previously reported in this condition. Angina therapy afforded amelioration of his symptoms. Mesenteric angina