Marden-Walker syndrome present in the neonatal period is characterized by oculo-facial abnormalities, congenital myopathy, and contractures. A newborn infant with a similar pattern of anomalies is reported, and further evidence for autosomal recessive inheritance as well as new neuropathological findings are included.
View Article and Find Full Text PDFUsing an rf-excited strip-line CO(2) laser with large lateral dimensions (a high Fresnel number) in a hemiconfocal optical cavity configuration, we observe modes that are distinctively off axial. They can be viewed as folded Gaussian beams with trajectories in the shapes of the letters M and W. Either of these modes can be isolated by suppressing the other mode through the introduction of a suitably positioned obstacle into the cavity.
View Article and Find Full Text PDFClin Chim Acta
November 1977
Biochemical studies are presented on two siblings with some features of Mucolipidosis III, but with distinctive clinical findings. Levels of beta-galatosidase, alpha-mannosidase, beta-glucuronidase, N-acetyl-beta-glucosaminidase and alpha-fucosidase found in serum from these patients ranged from 10 to 10 times higher than normal. The ratio of heat stable to heat labile serum isoenzymes of N-acetyl-beta-glucosaminidase is considerably greater than normal.
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