Biomedical subjects

J Burn

Publications and source records attributed to J Burn.

At least 199 records · Page 11Linked to original sources

PubMed1986

Robinow syndrome without mesomelic 'brachymelia': a report of five cases.

A family is described in which the father and his two children had Robinow syndrome, but with no consistent brachymelia or dwarfism. Two further sporadic cases are described, one with rhizomelic brachymelia and dwarfism and the other with generalised shortening of the limbs. An attempt is also made to distinguish between the phenotype of autosomal dominant and recessive cases on the basis of the familial cases in this paper and other reported cases.

Abnormalities, Multiple↗

PubMed1986

Williams syndrome.

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Aortic Valve Stenosis↗

PubMed1986

A terminal deletion of the long arm of chromosome 4 [46,XX,del(4)(q33)] in an infant with phenotypic features of Williams syndrome.

A female infant with peripheral pulmonary artery stenosis, growth retardation, and developmental delay was noticed to have facial features consistent with a diagnosis of Williams syndrome. Chromosome analysis revealed a deletion of the terminal portion of the long arm of chromosome 4 (4q33----qter). This is the seventh reported case of this chromosome disorder. It is possible that this chromosome region is specific for the Williams syndrome phenotype but it is more likely that the syndrome is heterogeneous. Chromosome analysis should be performed in all suspected cases with particular attention to the long arm of chromosome 4.

Chromosome Deletion↗

PubMed1986

Duchenne muscular dystrophy in one of monozygotic twin girls.

Monozygotic twin girls are reported, one of whom has the typical clinical features of Duchenne muscular dystrophy despite a normal female karyotype. Although certain features of the biopsy were atypical, the clinical diagnosis was supported by persistent markedly raised blood creatine kinase levels and findings typical of DMD on electromyography and magnetic resonance spectroscopy. Analysis of an X linked DNA polymorphism in 16 independent somatic cell hybrids made between cells derived from each girl and a mouse line suggest that in one twin only the maternal X chromosome is active, whereas in the other the active X was paternally derived. More data are needed to exclude sampling error. These preliminary experimental results support the hypothesis that both girls are heterozygous for Duchenne muscular dystrophy. X inactivation, by chance, resulted in two contrasting cell masses with different active X chromosomes. This segregation was followed by, and may even have resulted in, twinning into a female pair, one normal and one with the full clinical features of the disease.

Biopsy↗

PubMed1985

A case of 'essential' hypernatraemia due to resetting of the osmostat.

We describe a 24-year-old short, obese girl who has bizarre episodic neurological abnormalities related to hyperosmolality due to hypernatraemia. Investigation of osmoregulation by water loading and infusion of hypertonic saline revealed (i) hypodipsia with thirst onset raised to plasma osmolality of 332 mmol/kg and (ii) elevation of the threshold for vasopressin release (plasma osmolality 320 mmol/kg) but normal slope of the plasma vasopressin-plasma osmolality curve. Baroregulated vasopressin release was also grossly subnormal. Other hypothalamo-pituitary investigations showed deficiencies of releasing hormones for gonadotrophins and growth hormone, but prolactin response to combined hypoglycaemia and TRH was blunted She demonstrated other anomalies including hyperlipoproteinaemia and defective lymph drainage of the legs. Skull X-rays, together with computerized tomography and nuclear magnetic resonance scans of the hypothalamo-pituitary region and the rest of the brain were normal. We believe that this is the first case of essential hypernatraemia documented with direct evidence of resetting of the osmostat.

Adult↗

PubMed1985

Trigonocephaly and the Opitz C syndrome.

We present 12 cases of trigonocephaly of which six were associated with other malformations. On the basis of this experience we examine the diagnostic criteria for the presumed autosomal recessive trigonocephaly C syndrome.

Abnormalities, Multiple↗

PubMed1984

Brief clinical report: neural tube defects as an X-linked condition.

We present a family in which a woman had 3 brothers and 3 sons with neural tube defects.

Female↗

PubMed1984

Congenital heart defects and twinning.

A preliminary analysis of twins or triplets with heart defects, ascertained in five centres, confirms earlier suggestions that monozygotic (MZ) twins are over represented among twins with heart defects, even after excluding persistent ductus arteriosus and conjoined twins. An MZ twin individual has a risk of cardiovascular malformation approximately twice that of DZ twins and singletons. It is suggested that the twinning process itself affects one of the pair. Disturbance of laterality ('mirror imaging') is probably a more important mechanism than twin-twin transfusion. Inappropriate use of the twin method in the past has caused the importance of genetic factors in the etiology of congenital heart defects to be underestimated. Nevertheless, twins do provide a useful illustration of the likely importance of epigenetic factors in heart development.

Diseases in Twins↗

PubMed1984

Orofaciodigital syndrome with mesomelic limb shortening.

Two sisters, the children of first cousin Pakistani Moslem parents, have unusual facies, tongue hamartomata, pre- and postaxial polydactyly, severe talipes, and mesomelic limb shortening associated with tibial dysplasia. Homozygosity for a recessive gene defect is probable. The phenotype resembles, but is distinct from, the orofaciodigital syndromes delineated to date. We suggest that this condition be labelled OFD IV.

Abnormalities, Multiple↗

PubMed1984

The femoral hypoplasia-unusual facies syndrome.

A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.

Abnormalities, Multiple↗

PubMed1983