Three cases of a new congenital bone disorder associating facial anomalies (depressed nasal bridge, broad base of the nose, long philtrum) with short humeri. The complex skeletal abnormalities consist of a defect of growth of the distal end of the humerus, a hypoplastic everted condyle, an upper radioulnar diastasis, and a anterolateral dislocation of the head of the radius. The condition is dominantly inherited. Two other cases with the same facial anomalies and osteoarticular abnormalities of the upper limbs are described. These cases also showed a severe micromelic dwarfism due to shortness of the long bones, particularly the femora. The present authors consider that these represent variable expressivity of the same disorder and propose that this condition be called omodysplasia (from the Greek term for humerus).
The authors reviewed the sonograms in 15 cases of juvenile nephronophthisis. Medullary cysts were demonstrated in 13 children with terminal uremia. The diagnostic value of ultrasound is stressed because in many cases relevant genetic and pathological data are not available.
artenal dilatation at balloon site, very reduced renal flow with some reflux in aorta, and irregular nephrogram. Persistent visibility of small branches in middle third of kidney prompted second ethanol injection (1 .5 ml) after balloon reinflation.
Radiological abnormalities of the ribs are reported in 5 newborn infants with myotonic dystrophy. In all 5, the ribs appeared very thin, in contrast to the normal appearance of the rest of the skeleton. This slenderness, which is important for diagnosis and prognosis, seems to be caused by hypotonia of the intercostal muscles. However, it is not pathognomonic of myotonic dystropy, for it can be observed in other myopathies.
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