Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum.

Tracheoesophageal fistula, with or without esophageal atresia (TEF/EA) appears to be a defect of blastogenesis, as is the oculoauriculovertebral (Goldenhar) spectrum (OAVS), with which it has occasionally been associated. We reviewed the records of all OAVS patients evaluated through the University of South Florida Regional Genetics Program between 1985 and 1993. Of 60 OAVS patients, three had TEF/EA.

Cardiac size and motion during water immersion: implications for volume homeostasis.

Prior work has shown that head-out water immersion (WI) produces a prompt central hypervolemia, a natriuresis, and a diuresis. To assess if cardiac chamber enlargement modulates these effects, we measured cardiac size, shape, wall motion, and cardiac displacement via serial underwater two-dimensional echocardiography. Six normal volunteers underwent 2.

Classification of left ventricular thrombi by their history of systemic embolization using pattern recognition of two-dimensional echocardiograms.

Although one can diagnose left ventricular (LV) thrombi by two-dimensional echocardiography (2DE), the factors associated with peripheral embolization, given a 2DE with LV thrombi, have not been well delineated. Therefore we looked at 2DE and clinical variables that included texture features in the 2DE of 38 patients whose 2DE had LV thrombi and questioned these patients to see if clinical embolization had occurred in the 8.9 +/- 6.

Prediction of survival in progressive systemic sclerosis by multivariate analysis of clinical features.

The records of 64 patients with progressive systemic sclerosis (PSS) were reviewed. More than 100 items from the patient's history, physical examination, and laboratory tests were encoded. A two-tailed Gehan's test was used to evaluate the effect of each variable on patient survival.

Widened E point septal separation in a normal pediatric population.

To determine the age and gender distribution of the E point septal separation (EPSS), M-mode echocardiograms were obtained from 121 normal subjects aged four months to 82 years. A small but consistent age factor was found. In subjects less than age 20, EPSS was 3.

Cryptorchidism in mental retardation.

We surveyed 148 institutionalized male subjects to study the prevalence of cryptorchidism among mentally retarded individuals. Of the patients 121 (81.7 per cent) were profoundly (intelligence quotient 19 or less), 21 severely (20 to 35), 5 moderately (36 to 51) and 1 mildly (65) retarded.

Familial Williams syndrome.

Characteristic features of the Williams syndrome were observed in a mother and her presumably dizygotic twin daughters, suggesting either an X-linked dominant, autosomal dominant or multifactorial inheritance in this pedigree. The Williams syndrome generally has been thought to have a sporadic occurrence. The rare familial occurrence, however, suggests a possible heterogeneity in its etiology and also points out the importance of careful examination of the other family members for proper genetic counseling.