Clinical and biological studies in 14 cases of Prader-Labhart Willi syndrome.
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Humans↗
Biomedical subjects
E M Thompson
Publications and source records attributed to E M Thompson.
A child with sclerocornea, short limbs, short stature, and distinct facial appearance.
We describe a boy with sclerocornea, short limbs, short stature and a distinct facial appearance. The resemblance to other reports of affected sibs suggests that this is a newly recognised, autosomal recessive syndrome.
Abnormalities, Multiple↗
Genetic counselling in perinatally lethal and severe progressively deforming osteogenesis imperfecta.
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Female↗
Another family with the 'Habsburg jaw'.
We report a three generation family with similar facial characteristics to those of the Royal Habsburgs, including mandibular prognathism, thickened lower lip, prominent, often misshapen nose, flat malar areas, and mildly everted lower eyelids. One child had craniosynostosis which may be part of the syndrome.
Adult↗
Sorsby syndrome: a report on further generations of the original family.
Sorsby syndrome is a dominantly inherited combination of bilateral macular colobomas and apical dystrophy of the hands and feet (brachydactyly type B). We report on a further three affected members of the family originally described by Sorsby. Two of these have a single kidney, two have hearing loss, and one has a uterine anomaly.
Child↗
Multiple pterygium syndrome: evolution of the phenotype.
The clinical features of the multiple pterygium syndrome are multiple congenital joint contractures, multiple skin webs, camptodactyly, vertebral anomalies, short stature, ptosis, and antimongoloid eye slant. We present 11 new cases to show the evolution of the full phenotype from birth and to confirm autosomal recessive inheritance. We emphasise morbidity secondary to respiratory impairment and that conductive deafness may be part of the syndrome.
Child↗
A girl with the Weaver syndrome.
A female with the Weaver syndrome is reported. In addition to the characteristic manifestations of overgrowth and advanced bone age, the facies were typical, with a broad forehead, hypertelorism, a long philtrum, micrognathia, and large ears. Like most other patients with Weaver syndrome, she was developmentally delayed, hypertonic, and had a hoarse voice. Other clinical features included prominent finger pads, narrow hyperconvex nails, small and narrow chest, unilateral dislocated distal ulna, and abnormal thoracic vertebrae.
Abnormalities, Multiple↗
Osteogenesis imperfecta type IIA: evidence for dominant inheritance.
Thirty cases of radiologically proven type IIA osteogenesis imperfecta (OI) have been ascertained. All were isolated with 19 unaffected foreborn and 19 unaffected afterborn sibs. Two sets of parents, both Asian, were consanguineous. There was a significant parental age effect, most marked for paternal age. It is concluded that most cases of type IIA OI result from new dominant mutations.
Consanguinity↗
Recurrence risks and prognosis in severe sporadic osteogenesis imperfecta.
A study was carried out in the United Kingdom of patients with severe osteogenesis imperfecta (OI), born with fractures to normal parents, in order to determine recurrence risks. A total of 105 cases from 98 families survived the perinatal period and 60 cases from 57 families were stillborn or died during the first week of life. The majority of the perinatal survivors correspond to the overlapping group of Sillence type III and sporadic type IV OI. In 40 of these, the radiograph at birth was available and in 37 it showed a characteristic appearance similar to that described previously for type III OI. The other three cases had radiological type IIB OI at birth and died before 26 months of age. The patients with perinatally lethal OI were subdivided on radiological appearance into Sillence type IIA (30 cases, described in the previous paper), type IIB (12 cases from 11 families), and type IIC (three cases from three families), and in five cases from three families the radiological appearance was the same as that of the 37 perinatal survivors described above. Ten cases from 10 families were not classified because their radiographs were unavailable. To analyse the empirical recurrence risks, patients were grouped according to radiological appearance at birth. Those with a type III-like pattern numbered 42 cases and they were grouped with the other cases of severe deforming OI who survived the perinatal period, for whom no x ray at birth was available, making a total of 107 cases. Taking one affected child per family as the proband, there were 98 probands. They had 146 sibs, of whom 10 were affected, giving an empirical recurrence risk of 6.9%. This is consistent with the disease arising as a new dominant mutation in about three quarters of families and as a recessive in about one quarter in this heterogeneous group. It is reasonable to give a recurrence risk of up to 25% in cases with parental consanguinity and a risk of 4.4% in cases with unrelated parents. Fifteen patients (14 probands) with Sillence type IIB OI had 13 sibs, one affected, giving an empirical recurrence risk of 7.7%. The parents were consanguineous in three families and the evidence for autosomal recessive inheritance for the majority in this group is probably stronger. The three patients with type IIC OI had three healthy sibs and the 10 unclassifiable perinatally lethal cases had 22 sibs, all normal. The radiological appearance at birth predicts prognosis to some extent; essentially, the better the bone morphology and mineralisation the longer the survival.
Consanguinity↗
Effect of pretreatment with ranitidine on the hypnotic action of single doses of midazolam, temazepam and zopiclone. A clinical study.
Patients receiving midazolam, temazepam or zopiclone by mouth as premedication for minor gynaecological surgery were pretreated with either ranitidine or an inert tablet. Pretreatment with ranitidine was associated with a greater degree of drowsiness at 20 and 40 min after midazolam, and a shorter mean time to peak hypnotic effect than in the non-pretreated group. Ranitidine did not affect the degree of drowsiness in the patients receiving temazepam or zopiclone.
Adolescent↗
Combination treatment with ranitidine and sodium bicarbonate prior to obstetric anaesthesia.
The gastric pH and volume were measured in 175 patients undergoing elective, and 313 undergoing emergency, obstetric procedures. Ranitidine 150 mg was administered orally every 6 hours in labour and at least 2 hours before elective Caesarean section. Patients received 20 ml of 8.4% sodium bicarbonate orally immediately prior to induction of anaesthesia. The combination of ranitidine and sodium bicarbonate produced marked alkalinisation of gastric contents (mean pH 8.9). The administration of sodium bicarbonate pre-operatively in patients who received ranitidine less than 2 hours before operation led to satisfactory elevation of gastric pH. Only four patients had a gastric pH less than 2.5, one patient refused any medication, two received only ranitidine and one patient had a long interval from administration of bicarbonate to aspiration of gastric contents. Gastric volumes were high in labouring patients (mean 84 ml) despite administration of ranitidine. The effectiveness of sodium bicarbonate as a single dose antacid therapy prior to obstetric anaesthesia requires further study.
Anesthesia, General↗
A male infant with the Catel-Manzke syndrome and dislocatable knees.
A male infant is described with severe micrognathia and bilateral duplication of the proximal phalanges of the index fingers, an association which is characteristic of the Catel-Manzke syndrome. In addition, he had dislocatable knees, which have not been described in this disorder before.
Fingers↗
Necropsy findings in a child with FG syndrome.
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Abnormalities, Multiple↗
Plasma bupivacaine levels associated with extradural anaesthesia for caesarean section.
Plasma bupivacaine levels were measured in 47 women undergoing extradural Caesarean delivery. They were divided into four groups according to the following dose regimens using 0.5% bupivacaine. Group A were given a bolus of 20 ml with increment after 20 minutes. Groups B and C were given 10 ml initially with further increments if required at 10 minutes (group B) and 20 minutes (group C); Group D consisted of patients who had an extradural block extended for emergency Caesarean delivery. In the elective groups the highest and most rapidly achieved values were associated with group A and the lowest levels found in group C. The highest levels of all were found in the emergency group. The investigation indicates that slow controlled induction of extradural anaesthesia for Caesarean section greatly reduces the risk of local anaesthetic toxicity.
Anesthesia, Epidural↗
The FG syndrome: 7 new cases.
The X-linked FG syndrome is characterised by mental retardation, congenital hypotonia and constipation (which may both be severe), structural anal anomalies and relative macrocephaly in some, and an unusual and characteristic facial appearance. We describe 7 males from 4 families. One had anal stenosis. Two of the mothers and one sister show probable carrier manifestations. The features of the FG syndrome are individually non-specific. We emphasize that the characteristic combination of features is needed to avoid overdiagnosis.
Adult↗
Amniotic bands in connective tissue disorders.
Amniotic bands are described in two children with Ehlers-Danlos syndrome type IV and in one with severe osteogenesis imperfecta. Since the basic defect in both of these disorders rests in collagen, which constitutes the main component of the load bearing amnion, it is proposed that these cases provide further insight into the pathogenesis of amniotic bands.
Adult↗
Quantitation in inflammatory bowel disease using computerised interactive image analysis.
Objective measurements of various histological features in rectal biopsy material were made using computerised interactive image analysis. Analysis of the resulting data by forward stepwise discriminant analysis showed that biopsies from patients with ulcerative colitis and infective diarrhoea could be distinguished from each other and from normal biopsies; they could not, however, be distinguished from biopsies of patients with Crohn's disease, which behaves as a heterogeneous entity rather than a single disease. The measurements showed that the crypt atrophy described in active ulcerative colitis may be a misnomer, the appearances being due to an increase in mucosal depth and alteration in crypt configuration rather than a true atrophy. Unexpectedly, the ratio of crypt cell height to surface cell height gave the best separation of Crohn's disease from ulcerative colitis.
Colitis, Ulcerative↗
Inhibition of experimental colorectal cancer by razoxane (ICRF-159).
Large bowel cancer induced in rats by dimethylhydrazine (DMH) closely resembles human disease both histologically and clinically. In this study it has been used to assess the antimitotic drug razoxane (ICRF-159). Dimethylhydrazine induced benign colorectal tumours after 20 weeks and adenocarcinomas from 30 weeks. Razoxane was given from week 25 until the end of experiment (week 35) to see if this drug could inhibit the development of tumours. Animals were randomly allocated to four groups: DMH + razoxane (26), DMH + control (26), control + razoxane (25), control + control (25). There were fewer malignant colorectal tumours in rats receiving razoxane than in the controls (10 vs. 24; P = 0.04). Some animals developed malignant tumours of the small intestine as well as the large bowel and the number of malignant tumours for the whole intestinal tract was also reduced in animals receiving razoxane (15 vs. 32; P = 0.025). This study demonstrates inhibition of the development of malignant tumours in rats by razoxane. This finding may have relevance to colorectal cancer in man where razoxane has been used in disseminated disease and as an adjuvant to surgery.
1,2-Dimethylhydrazine↗