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Biomedical subjects

M Baraitser

Publications and source records attributed to M Baraitser.

At least 127 records · Page 7Linked to original sources
PubMed1988

Distinctive syndrome of short stature, craniosynostosis, skeletal changes, and malformed ears.

We report on 2 unrelated boys with a distinctive facial appearance of microtia, atretic external auditory meati, small mandible, and microstomia, who also have a skeletal dysplasia, microcephaly, and joint contractures. The skeletal abnormalities, short stature, and microcephaly led to an initial diagnosis of osteodysplastic primordial dwarfism; however, the birth weight of one of the children is not low enough to firmly establish this diagnosis. The similarities were detected by the matching program of the London Dysmorphology Data-base.

Abnormalities, Multiple↗
PubMed1988

Genetic prediction in Huntington's disease: what are the limitations imposed by pedigree structure?

The major factor limiting use of the polymorphic DNA sequence D4S10, genetically linked to the Huntington's disease (HD) locus, in clinical practice is the fragmented nature of HD families. A population survey in South Wales suggested that genetic prediction would only be possible in 15% of adults at risk as a result of this. We have analysed pedigrees from 151 families, containing 482 adults between 18 and 45 years of age who were at high risk of developing HD, 157 of whom had attended genetic counselling clinics. Thirty-seven percent of adults at high risk in these kindreds had the appropriate pedigree structure needed for presymptomatic testing. It should be possible to perform fetal exclusion tests in about 80% of pregnancies at risk.

Adolescent↗
PubMed1988

Congenital spinal deformity in a three generation family.

Short stature resulting from spinal deformity in three generations of a family is reported. Multiple vertebral anomalies were found in the proband and are the probable underlying cause of the severe scoliosis seen in the adult members. The pattern of inheritance suggests that an autosomal dominant gene is responsible for this condition, but it may well be the same gene that causes the dominant form of spondylocostal dysostosis, this family representing one end of the spectrum with mild rib changes. The clinical features of spondylocostal dysostosis are reviewed.

Adolescent↗
PubMed1988

A reappraisal of the CHARGE association.

We describe 14 boys and six girls, including monozygotic twins, with the CHARGE association. All of the children had at least four of the seven major features included in the mnemonic CHARGE and all had ear anomalies or deafness or both and either coloboma or choanal atresia or both. All the boys had evidence of hypogonadism. A characteristic facial appearance (unusually shaped ears, unilateral facial palsy, square face, malar flattening, pinched nostrils) was observed in many of our cases. The aetiology remains unknown. All our cases are sporadic.

Adolescent↗
PubMed1988

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↗
PubMed1987

DOOR syndrome (deafness, onycho-osteodystrophy, and mental retardation): elevated plasma and urinary 2-oxoglutarate in three unrelated patients.

We describe three further children with the DOOR syndrome (deafness, onycho-osteodystrophy and mental retardation). A severe seizure disorder and characteristic facial appearance are part of the syndrome. Fourteen similar cases including the present patients are now on record. Autosomal recessive inheritance is likely. An increased level of 2-oxoglutarate in both plasma and urine has been found in our three patients. It is suggested there may be an inherited metabolic defect in this malformation syndrome.

Abnormalities, Multiple↗
PubMed1987

Proteus syndrome: an expanded phenotype.

We report on 11 new cases of Proteus syndrome to illustrate the broad range of the phenotype in this hamartomatous dysplasia. The cardinal manifestations of this sporadic disorder are hemihypertrophy, macrodactyly, exostoses, scoliosis, cavernous hemangiomas, lipomas, linear sebaceous nevi, and deeply rugated soles of the feet. Intelligence is usually normal. The differential diagnosis includes Klippel-Trenaunay-Weber and partial lipodystrophy syndromes.

Adolescent↗
PubMed1987

The use of a computerised database for the diagnosis of a rare neurological syndrome.

A database which runs on an office microcomputer is being developed for the diagnosis of genetically determined neurological disorders. At present about 1100 conditions with their clinical features and 3000 references are stored in the database. We discuss a family with 3 sibs affected by a unique neurological disorder and show how the database is used. The 3 sibs, 4, 5 and 10 years old, show the same clinical course characterized by congenital cataracts, microcephaly, hypotonia, mental retardation, pyramidal signs and choreoathetoid movements starting in early childhood. The parents are first cousins of Bangladeshi origin. This condition does not appear in published report and is not listed in the database. It can therefore be concluded that the sibs have a unique autosomal recessive disorder.

Athetosis↗