[Prader-Labhardt-Willi syndrome].
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Biomedical subjects
Publications and source records attributed to J Battin.
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As compared to a control group, the study of the pituitary reserve of gonadotrophins in 50, not yet puberous, cryptorchid boys, evoked that there is a heterogeneity in cryptorchism. The LH pituitary reserve may be insufficient, normal or increased; the FSH pituitary reserve may be normal or above normal. A longitudinal study of these patients, as well as the correlations with ultra-structural and histologic studies should lead to a better understanding of the significance of the hormonal abnormalities encountered in cryptorchism, and to a better appreciation of the associated testicular changes.
Ultrasound examination was performed in a 45 year-old pregnant woman at 17 weeks gestation. A morphologic abnormality was seen of the nape which could not be interpreted. Amniocentesis could not be performed. Termination of pregnancy by hysterotomy was carried out. Postmortem examination showed an intact fetus with a soft tissue thickening at the back of the neck and a ventricular septal defect. Chromosomal analysis was reported as 47,XY,+21. This case demonstrates that an excess of skin of the foetal nape can be seen at ultrasound examination and may suggest a Down syndrome.
The case of two twins with micromelic dwarfism noticed at birth are reported. The studies performed on fibroblasts, lymphocytes and epiphyseal cartilage, suggest that a disturbance is involved in the cell division mechanisms.
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