Progressive hemifacial atrophy with scleroderma and ipsilateral limb wasting (Parry-Romberg syndrome).
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Biomedical subjects
Publications and source records attributed to T J David.
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A retrospective study of 56 children with dislocation of the hip presenting late found that the mean age at which the parents first noticed that something was wrong (including hip abnormalities found at birth in 10 patients) was 11 months, but that at diagnosis was 26 months, a mean delay of 15 months. The reasons for delay were failure to examine the hips at birth (13 cases), failure to follow up abnormalities at birth (7), failure of symptoms noticed by the parents to alert the health-care professional to the possibility of a dislocated hip (36), failure to check the hips routinely after 3 months (27), and failure of the parents to appreciate the significance of abnormalities and to act on them (28). Hip screening should continue beyond the neonatal period and should include routine checks on all children until they are walking normally. A greater awareness in health-care professionals of the features of hip dislocation and further health education for parents are needed.
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Intravenous ceftazidime (140 mg/kg/day for 14 days) was used in 28 consecutive admissions for severe respiratory infections in children and young adults with cystic fibrosis. In 20 cases ceftazidime was the sole antibiotic, but in the first eight cases it was accompanied by oral flucloxacillin. Pseudomonas aeruginosa was present in all cases, accompanied by Staphylococcus aureus in seven. Both organisms were sensitive to ceftazidime (MIC 0.12 to 8) and no case of ceftazidime resistance was seen, not even in one patient who received six courses. One patient, admitted moribund, died after only one dose had been given, his death being unconnected with the drug. In the other 27 courses there was an excellent clinical response, judged to be as good as our former high dosage carbenicillin and tobramycin combination though with much greater patient acceptability.
We describe two patients with haemangioma with thrombocytopenia (Kasabach-Merritt syndrome). Both were treated with corticosteroids without notable improvement. The first patient responded satisfactorily to radiotherapy, whereas the second showed a slow spontaneous resolution.
The necropsy reports of 174 cases of anencephaly, born in the Fylde peninsula of Lancashire between 1957 and 1980, have been analysed for the presence of other malformations. The results were compared with a similar previous series from Bristol, though the Bristol study differed both in time (1948 to 1975) and in the fact that it was hospital based and, unlike the present study, did not achieve near complete ascertainment. Of the Lancashire anencephalics, 24% had other malformations, a significantly lower rate than in the Bristol series. There was a much higher rate of renal and urinary tract defects in the Bristol series, and a higher rate of cardiovascular defects in the Lancashire series. The distribution of associated malformations differed in the two areas, possibly representing different patterns of aetiological heterogeneity. The iniencephaly rate was so much lower in Lancashire as to suggest an artefact, perhaps owing to the lack of a precise definition of the condition.
Costovertebral dysplasia comprises multiple malformations of the vertebrae and ribs, with a characteristic clinical picture of short trunk dwarfism, short neck, scoliosis, and rib cage deformity. We describe two sibs with the syndrome who are presumed to represent the autosomal recessive form of the disorder. One sib died from a malignant cerebral tumour and the association may be more than fortuitous.
In 7 patients seen over 3 years, cystic fibrosis had been wrongly diagnosed. The initial sweat test was misleadingly high in only 3 cases. In 1 case no sweat test had been done, and in 4 one or more normal sweat-test results were ignored. As a result of misdiagnosis 4 children were sent to schools for the physically handicapped and 1 man lost his job in the police. Despite warnings about the limitations of sweat tests and dangers of diagnosing cystic fibrosis without typical clinical features, cystic fibrosis is wrongly diagnosed in substantial numbers of children in England.
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The suggestion that Debendox may cause the Poland anomaly is refuted by a study of the antenatal drug exposure in 46 cases of the Poland anomaly and 32 cases of isolated absence of the pectoralis major. Debendox had been prescribed in one case of the Poland anomaly and in one case of isolated pectoralis absence, but in neither was the compound given during organogenesis. In none of the 78 cases could Debendox be causally implicated.
The Poland anomaly is usually a non-genetic malformation syndrome. This paper reports two second cousins who both had a typical left sided Poland anomaly, and this constitutes the first recorded case of this condition affecting more than one member of a family. Despite this, for the purposes of genetic counselling, the Poland anomaly can be regarded as a sporadic condition with an extremely low recurrence risk.
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A major landmark on the palm, the t triradius, is usually found near the wrist. Much interest centres on the fact that it is sometimes found to be central in the palm. It is suggested that, during embryonic development, the t triradius migrates from a position in the centre of the palm to arrive near the wrist. According to this hypothesis, those cases where t triradius remained in the centre of the palm would represent arrests of development. This might explain the association of certain chromosome abnormalities with a t triradius in the centre of the palm.
Fifty parents of 36 consecutive children admitted to hospital with their first febrile convulsion were interviewed shortly after the event. Very few parents voluntarily said that they had thought their child was dying, but when asked specifically the majority said they had thought the child was dying or likely to die. This common fear should be kept in mind when discussing febrile convulsions with parents, who are unlikely to volunteer the information.