Biomedical subjects
Publications and source records attributed to T J David.
A 2 1/2-year-old girl with hypomelanosis of Itô is described. There is a bizarre distribution of congenital depigmentation stopping abruptly at the midline anteriorly, with whorl-like and zig-zag patterning. As can happen in this syndrome, there is severe retardation and intractible epilepsy, with computerized tomography showing gross cerebral atrophy.
The Bristol Bone Dysplasia Registry was established in 1969. The panel included radiologists, paediatricians, orthopaedic surgeons, pathologists, a paediatric biochemist, an anatomist/anthropologist, a veterinary surgeon, dentists and oral surgeons, and a psychiatrist. The panel met every two months. Cases either entered the Registry directly if they were straightforward or after discussion by the panel if there was doubt about the diagnosis or a point of special interest. A total of 468 cases was collected, including 81 cases with miscellaneous bony disorders and 34 cases where the diagnosis was uncertain. The Registry provided a useful regional diagnostic service and promoted interest in body dysplasias. Some of the research aims have not yet been fully achieved. This paper explains how the Registry is run to help those whom it is hoped will set up similar registries elsewhere.
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A bizarre syndrome has hitherto masqueraded as leprechaunism, and although it is a quite different disorder it has been used as the prototype of leprechaunism in some birth defects atlases. It is proposed that this condition is designated the Patterson syndrome and details of a second case are reported. The features of this connective tissue and neuroendocrine disorder include bronzed hyperpigmentation, cutis laxa of the hands and feet, bodily disproportion, severe mental retardation, and major bony deformities. Radiographs revealed a unique and gross generalised skeletal dysplasia, unlikely to be confused with any other disorder. This endocrine abnormality comprised hyperadrenocorticism, cushingoid features, and diabetes mellitus in the first case, and premature adrenarche in the second case. The pathogenesis and aetiology of the Patterson syndrome are unknown, although quantitative and qualitative abnormalities of mucopolysaccharide excretion were found in the second case.
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The palmar dermatoglyphs of 800 patients with anatomically proven congenital heart disease were compared with prints from 1000 controls. A review of the previous studies revealed major technical deficiencies, and the present study failed to confirm most of the previously reported positive findings. An overall increase in the incidence of hypothenar patterns was found, probably explaining the previous suggestion of increased atd angle in congenital heart disease. A large number of statistical comparisons inevitably produced a few 'significant' results, most of which were inconsistent in various ways. Two percent of cases were found to have rare epidermal ridge malformation, ridge dissociation. The nature of the relationship between this and congenital heart disease is obscure. Claims that there are diagnostically useful dermatoglyphic changes in congenital heart disease can be disregarded.
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The 'corrected' atd angle has been studied in 1,000 healthy subjects, and a normal range established. This corrected angle eliminates the huge errors due to lateral deviation of the triradius, and taking the print with the fingers adducted eliminates another major error. The corrected atd angle, although an improvement on an ordinary atd angle, is still affected by age, and studies will have to continue to subdivide subjects into discrete age groups. The distribution of the corrected atd angle is not normal, and the mean atd angle has limitations. Comparisons between groups of subjects are probably best made by making arbitrary limits for the range of normality, and some figures for these limits are suggested.
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Out of a series of 219 women who had had a child with anencephaly or spina bifida (ASB) in the Manchester area, there were 69 where this ASB pregnancy had been both preceded and succeeded by at least one other pregnancy. There was a significant excess of spontaneous abortions when the preceding pregnancy was compared with the succeeding pregnancy. Half of these abortions were followed by curettage of the uterus, a fact which is a little against the trophoblastic rest hypothesis.
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A study of diaphragmatic hernia in Avon suggests that the incidence of this malformation is increasing. The incidence in Avon from 1974 to 1977 was 0.54 per 1000 births, higher than any previously published figure for the incidence of diaphragmatic hernia.
Two dizygous twin sisters with the Sjögren-Larsson syndrome are described. There was parental consanguinity, and the condition is inherited as an autosomal recessive. The main features are mental retardation, spastic diplegia and ichthyosis. Sensory defects of gums and abnormal facial movements were found in the twins, these being recognised features of the syndrome. It is suggested that the condition may be due to an abnormality of the neural crest.
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