megalencephaly/abdominal pain

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[Megalencephaly: a report of 4 children including a previously undescribed congenital syndrome and review of the literature (author's transl)].

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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

A new case with 10q23 interstitial deletion encompassing both PTEN and BMPR1A narrows the genetic region deleted in juvenile polyposis syndrome.

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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

Mesenteric angina complicating a mesodermal anomaly.

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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

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