Biomedical subjects
Publications and source records attributed to G Camera.
A stillborn male with skeletal anomalies resembling achondrogenesis with remarkably sclerotic bones is reported. The term "Pyknoachondrogenesis" is suggested for this hitherto undescribed condition.
We report making the prenatal diagnosis of thanatophoric dysplasia at 24 weeks gestation. The ultrasound examination showed short limbs. By in utero radiological study, we could see the typical changes of this skeletal dysplasia. Radiological and histological studies confirmed the aborted fetus to be affected with thanatophoric dysplasia.
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The quantitative expression of GALT and galactose utilization have been investigated in two patients with 9p deletion. Case 1 had a distal deletion of the band 9p22 leads to pter, while case 2 had an interstitial deletion of the region 9p133 leads to p23. In the former patient GALT activity and galactose utilization were found to be normal: in the latter decreased GALT activity and a significant decrease of galactose utilization were present. The above findings suggest that the GALT locus is in the 9p21 band.
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A new family with the A2 type brachydactily is described. It is the first one observed in Italy and the sixth of the world literature. Brachymesophalangy of index fingers and/or second toes is the typical osseous malformation which was present in 14 individuals from 4 generations. The defect is transmitted by an autosomal dominant gene with high penetrance and variable expressivity.
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The different forms of congenital osteochondrodysplasias are reviewed and personal cases (achondrogenesis; thanatophoric dwarfism; thanatophoric dwarfism associated with cloverleaf skull; asphyxiating thoracic dystrophy etc.) are presented.
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