Search PubMed⌕ Search

Biomedical subjects

F C Fraser

Publications and source records attributed to F C Fraser.

At least 73 records · Page 4Linked to original sources
PubMed1983

An oculocerebral hypopigmentation syndrome.

An oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, high arched palate, small, widely spaced teeth, generalized hypopigmentation, psychomotor retardation, progressive neurological manifestations and hypochromic anemia is described in sibs. The finding of parental consanguinity supports autosomal recessive inheritance. The syndrome resembles the Cross syndrome (1,2).

Abnormalities, Multiple↗
PubMed1982

Susceptibility to cleft palate and the major histocompatibility complex (H-2) in the mouse.

The congenic mouse strains B10 and B10.A differ genetically only at the H-2 locus, B10 having the H-2b and B10.A the H-2a haplotype. The two strains also differ in susceptibility to cortisone-induced cleft palate, B10 being more resistant than B10.A. Since stage of palate closure is also associated with susceptibility to cortisone-induced cleft palate it was postulated that the H-2 haplotype may affect the cortisone-induced cleft palate susceptibility by altering the stage of palate closure. The present study shows that palate closure occurs at the same stage in the two strains, so this hypothesis must be rejected.

Animals↗
PubMed1982

Spectrum of anomalies in Fanconi anaemia.

The frequency of various anomalies was compared in probands with Fanconi anaemia and their affected sibs. As probands are usually ascertained because of a 'characteristic' array of physical anomalies, the frequencies of these specific anomalies may be overestimated in probands, whereas their affected sibs may provide a more accurate estimate. The frequencies of growth retardation, skin hyperpigmentation, radial ray deformities, radial ray reduction deformities, hypogenitalia, and supernumerary thumbs were significantly lower in the affected sibs of probands than in probands. Since 25% of the affected sibs had no dysmorphic features, absence of dysmorphism is not sufficient to rule out the diagnosis.

Adolescent↗
PubMed1981

Spectrum of anomalies in the Meckel syndrome, or: "Maybe there is a malformation syndrome with at least one constant anomaly".

The Meckel syndrome comprises a variety of defects including the classical triad of occipital encephalocele, cystic kidneys, and polydactyly. The frequencies of the various defects are more accurately represented in the affected sibs of probands than in the probands themselves, since the latter are selected according to severity and preconceived notions of what constitutes the syndrome. In a series of 38 such sibs, all had cystic dysplasia of the kidney, 63% had an occipital meningocele, 55% had polydactyly, and 18% had no reported brain malformation. In families in which the proband had the classical triad, only 68% of the affected sibs had it. It is concluded that the diagnosis of Meckel syndrome may not be valid in the absence of cystic kidney dysplasia. In babies with encephalocele or anencephaly, pathologic examination, particularly of the kidneys, is important in determining risk of recurrence. This approach to estimating the variability of a syndrome might profitably be extended to other genetically determined pleiotropic conditions.

Abnormalities, Multiple↗
PubMed1981

On genetic screening of donors for artificial insemination.

Reliable information on the frequency of birth defects in children conceived by artificial insemination is lacking and should be collected. Genetic screening of donors for artificial insemination is recommended, and guidelines are proposed. These consider the kinds of disorder in the presumptive donor, or his relatives, that would preclude his use as a donor, and the steps to be taken with relatives, that would preclude his use as a donor, and the steps to be taken with respect to genetic counseling if a defective baby is born following the procedure.

Abortion, Spontaneous↗
PubMed1981

Genetics society of Canada award of excellence lecture. The genetics of common familial disorders--major genes or multifactorial?

The common familial disorders were, until recently, neglected by geneticists because their familial distributions did not neatly fit the Mendelian mold, and no specific genes could be identified. The multifactorial-threshold model made the familial characteristics of these disorders more intelligible. Although it originally postulated a polygenic genetic component the model can also accommodate one or more major genes with low penetrance. The resulting upsurge of interest has led to (1) the development of increasingly sophisticated mathematical models from which to calculate recurrence risks for specific family situations and (2) the identification of specific predisposing genes in a number of such disorders. One of the corollaries of the model is that any pharmacological agent at therapeutic doses is likely to be teratogenic to at least some embryos, so that regulation should be in terms of "acceptably low" levels of teratogenicity rather than "safety".

Abnormalities, Drug-Induced↗
PubMed1980

Congenital hypothalamic hamartoblastoma, hypopituitarism, imperforate anus and postaxial polydactyly--a new syndrome? Part I: clinical, causal, and pathogenetic considerations.

We report on six infants with a neonatally lethal malformation syndrome of hypothalamic hamartoblastoma, postaxial polydactyly, and imperforate anus. Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula, hypoadrenalism, microphallus, congenital heart defect, and intrauterine growth retardation. The infants also had hypopituitarism and hypoadrenalism. All were sporadic cases, parents were not consanguineous, chromosomes were apparently normal. Family histories were unremarkable. There was insecticide and/or herbicide exposure in several of the cases, but no exposures were common to all 6 mothers. Five of the patients were born within an 8-month period, but all in different geographic locations. It is postulated that this is a previously apparently unreported syndrome of presently unknown cause.

Anus, Imperforate↗
PubMed1980

Frequency of the branchio-oto-renal (BOR) syndrome in children with profound hearing loss.

Nineteen of 421 white children in Montreal schools for the deaf had preauricular pits. The branchio-oto-renal (BOR syndrome was identified in four of the nine families who agreed to family investigation, including audiograms and intravenous pyelograms (IVPs) and may have been present in several others. The penetrance of this autosomal dominant syndrome appears to be high. It is estimated that severe renal dysplasia occurs in about 6% of heterozygotes. The presence of a preauricular pit at birth suggests that the child has at least one chance in 200 of severe hearing loss, and this warrants a careful family history, as well as alertness for any signs of hearing impairment. Offspring of affected individuals are eligible for parental diagnosis of renal dysplasia.

Adolescent↗
PubMed1980

Genetic maternal effects on cleft lip frequency in A/J and CL/Fr mice.

Two related strains of mice, A/J and CL/Fr, differ in the frequency of spontaneous cleft lip produced in term fetuses: 10% versus 25%. In order to examine the nature of the genetic basis for this difference, various crosses between the strains were made. The results indicated that genes acting in the mothers, rather than in the embryos, caused the strain difference, and that their effect may be on CL(P) embryo survival rather than occurrence. The A/J strain alleles were dominant to those of CL/Fr, and a one-locus difference can explain the data. The importance of genetic maternal effects on CL(P) frequency in mice, with dominance, should be borne in mind when the polygenic, additive threshold model is applied to human data. Neither effect is allowed within the model, yet if the traits are homologous between species, these effects may well be present in man as in the mouse.

Alleles↗