Anal dilatation and anal dilatation reflex associated with severe haemorrhagic colitis.
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Biomedical subjects
Publications and source records attributed to J Insley.
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We report the progress up to the age of seven years of a small for dates baby whose face and neck are strikingly devoid of subcutaneous tissue and who has, in addition, multiple pigmented naevi.
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We are still in the early days as far as antenatal diagnosis of fetal disease and abnormality are concerned. All of the techniques show a high degree of accuracy if used in the correct circumstances but, apart from the use of maternal blood to assess the Rhesus status and screen for neural tube defects and amniocentesis to search for age-dependent mongolism, present techniques are too cumbersome, inaccurate and dangerous to be offered as routine antenatal tests. The rapid development in ultrasound equipment and expertise and the recent advances in fetal blood sampling and biochemistry suggest that there will be continued and rapid expansion within the field.
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Some families with abnormalities of chromosome 9 have been combined with others from the literature to show that AK1 and ABO must lie near the end of that chromosome. Current evidence suggests that both lie in band 9q34. MNSs, GPT and Gc can be excluded from chromosome 9.
Two brothers are described with identical features of short-limbed dwarfism, normal face, hands and feet, respiratory difficulties and mild scoliosis. It proved impossible to offer a definitive diagnosis, though radiological features as a whole bore similarities to those of metatropic dwarfism, with the most notable feature the narrowing of the ossified components of the vertebral bodies.
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Twenty-five out of 205 (i.e. 12%) babies born to diabetic mothers in the Birmingham Maternity Hospital in the period 1969-1974 were malformed as against 6% in a control group. The incidence was highest in the group where mothers were on insulin at the time of conception (17 out of 117, i.e. 15%). No correlation was observed between major malformation in this group and age of onset or duration of the diabetes, progressive vascular complications, maternal age, or parity. Cardiovascular malformations were over-represented.
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