Search PubMed⌕ Search

Biomedical subjects

M Baraitser

Publications and source records attributed to M Baraitser.

At least 163 records · Page 9Linked to original sources
PubMed1985

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↗
PubMed1985

Reduced penetrance in tuberous sclerosis.

Two first cousins are reported with clinical evidence of tuberous sclerosis. The intervening brother and sister show no evidence of the disease on clinical and Wood's lamp examination, nor on CT scan.

Adolescent↗
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↗
PubMed1985

The clinical features of the Cohen syndrome: further case reports.

We report the clinical features of six patients with the Cohen syndrome. The characteristic features include mental retardation, truncal obesity, prominent incisors, and tapering digits. Pelviureteric obstruction and epilepsy are reported as possible new features of this syndrome.

Abnormalities, Multiple↗
PubMed1984

A computerised data base for the diagnosis of rare dysmorphic syndromes.

A system is described for the computerised storage and retrieval of information on rare dysmorphic syndromes. The clinician can ask a microcomputer for a list of syndromes with any logical combination of physical abnormalities. A descriptive title and full references are also provided on request. Similar systems would be applicable to other medical specialties.

Abnormalities, Multiple↗
PubMed1984

The 3-M syndrome.

Five patients from four families, including two male sibs, are reported with clinical and radiological features of the 3-M syndrome.

Abnormalities, Multiple↗
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↗
PubMed1984

Autosomal dominant late onset cerebellar ataxia with myoclonus, peripheral neuropathy and sensorineural deafness: a clinicopathological report.

Three members of a family were affected by an autosomal dominant disorder comprising cerebellar ataxia, sensorineural deafness, myoclonus, and peripheral neuropathy. This is the second kindred with this syndrome reported to date. Necropsy of the proband showed loss of cells in the dentate nuclei, a reduced amount of cerebellar white matter, and pallor of the gracile tracts in the spinal cord.

Adult↗
PubMed1983

Effect of genetic counselling on the prevalence of Huntington's chorea.

The relative fertility of sons and daughters of patients with Huntington's chorea was found to be a little under 0.5 if they had been told of their risk of transmitting the disease before they had started their families. The effect was much the same in those who had attended the genetic clinic at The Hospital for Sick Children on a single occasion and those who had been told of their risk directly, or indirectly through the patient's spouse or family doctor, by the neurologist who was looking after their affected parent at the National Hospital for Nervous Diseases. If all offspring of patients were informed of their risk the effect on the prevalence of the disorder would be substantial, especially if the mutation rate is low and the reproductive fitness of patients in the past has been close to 1.0. Men and women at risk of developing the disease should not be seen on just one occasion, however: they need continued support by being seen regularly at a special neurological genetic clinic.

Birth Rate↗