A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional ...

An unusual multifocal degeneration of the myofibres of all chambers and the conducting system of the heart was found in a 4-month-old female in whom ventricular pre-excitation (Wolff-Parkinson-White syndrome) had been demonstrated. There was a complex malformation of the brain with hydrocephalus and bilateral corneal opacities and microphthalmos. The affected ...

A case of a 20 years old female who had Noonan syndrome associated with obstructive cardiomyopathy was presented. It is well known that Noonan syndrome is frequently complicated with cardiac anomaly, and although no autopsies were performed two cases have been diagnosed clinically as Noonan syndrome accompanied with idiopathic cardiomyopathy ...

Despite their prevalence, functional disturbances of the gastrointestinal tract in response to stress are often disregarded or unrecognized. The nature of these disturbances, particularly the irritable bowel syndrome, is discussed and an outline of treatment programs given, stressing the need for psychotherapy.

A patient is presented who lived to age 60 with complete interruption of the aorta associated with Noonan's syndrome. On chest x-ray there were calcified mediastinal masses and bilateral rib notching. Angiography demonstrated complete interruption of the aorta with markedly dilated tortuous intercostal arteries. The roentgenographic studies are correlated with ...

Eight patients with bronchogenic carcinoma presented with painful joint effusions as part of the syndrome of hypertrophic osteoarthropathy. Elevated sedimentation rates and symptomatic relief with aspirin were common, but synovial fluids all had leukocyte counts less than 500/mm3. Synovial microvascular injury was found in all patients, and electron-dense deposits in ...

Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children ranging in age from 6 to 24 months, with a clinicopathologic syndrome termed "infantile cardiomyopathy with histiocytoid change in cardiac muscle cells." This syndrome is manifested clinically by severe, eventually fatal cardiac arrhythmias, ...

Two patients with hypertrophic obstructive cardiomyopathy and Noonan's syndrome are presented. Both patients were found at postmortem examination to have gross malformation of the mitral valve and obliteration of the left ventricle due to muscle hypertrophy. Each case demonstrated similar clinical, echocardiographic, and angiographic findings. The poor response to medical ...

Echocardiography has been used for cardiovascular evaluation of individuals and families with Ullrich-Noonan syndrome. Previously undiagnosed left ventricular disease has been found as a discrete lesion or in association with other cardiac abnormalities. This raises the estimated frequency of heart disease in the Ullrich-Noonan syndrome to about 50%. Since left ...

During the winter of 1971-72 faecal samples from 91 diarrhoeic calves, 25 of which were considered to be suffering from the "collapse syndrome" were examined bacteriologically. E coli of serotypes reported as having the ability to produce enterotoxins were isolated from most of the calves with the "collapse syndrome", but ...

A therapeutical program in pre-eclampsia and eclampsia is presented. The results in 10 patients suggest that the same basic program as is used in the hypoperfusion syndrome can be used in pre-eclampsia and eclampsia: Chlorpromazin to combat vasoconstriction and dilate the vascular bed. Plasma expanders, plasma, albumin and glucose with ...

The calcification of rat hypertrophic cartilage slices in vitro is markedly inhibited by preliminary exposure to metachromatic and other basic dyes. The dyes are effective at 10(-3) to 10(-4)M in the absence of calcium and phosphate. This inhibition does not occur at the same low dye concentration if calcium and ...