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Biomedical subjects

F C Fraser

Publications and source records attributed to F C Fraser.

At least 55 records · Page 3Linked to original sources
PubMed1987

Epidemiological studies of neural tube defects in Newfoundland.

A 9-year survey of neural tube defects in Newfoundland showed (1) evidence for secular variation, with a peak in 1980, but no general downward trend as seen in some other populations; (2) significant geographic variation which did not correlate with hardness or nitrate content of the lake water; (3) a tendency for the proportion of females among anencephalic births to increase with increasing frequency of anencephaly among geographic regions. This supports previous evidence for a female-specific contribution to the causes of increased liability to neural tube defect.

Abortion, Spontaneous↗
PubMed1987

The clinical consequences of X-chromosome inactivation: Duchenne muscular dystrophy in one of monozygotic twins.

We have ascertained retrospectively a female patient, one of identical twins, who was diagnosed at age 23 years as having Duchenne muscular dystrophy (DMD). A muscle biopsy at that time showed a pattern in which large areas of destroyed muscle fibers replaced with adipose tissue were interspersed with normal-appearing muscle fascicles. The visualization of Barr bodies in the muscle biopsy, plus the patient's normal menstrual history served to rule out Turner's syndrome. The clinical expression of DMD in only one of monozygotic twins is strongly suggestive of uneven lyonization, with an excess of paternally derived X-chromosomes being inactivated in the patient. This view is supported by the appearance of the muscle biopsy. Twinning may conceivably predispose to uneven lyonization by reducing the size of the muscle cell anlage at the time of X-chromosome inactivation. Alternatively, lyonization may occur before the splitting of the embryonic mass, and by chance, the two embryonic centers could end up with a significantly different proportion of active maternal and paternal X-chromosomes.

Adult↗
PubMed1987

An aminopterin-like syndrome without aminopterin (ASSAS).

In two patients that closely resembled the phenotype of the syndrome produced by aminopterin in early pregnancy, no evidence of maternal exposure could be elicited. These, plus two similar cases from the literature, suggest the existence of an "aminopterin-like syndrome sine aminopterin" (ASSA) syndrome. Characteristic traits are: ossification defects of the cranium, temporal recession of hairline with upswept frontal hair pattern, ocular hypertelorism, prominent nose root, low set posteriorly rotated ears, limited elbow movement, variable digital defects, simian creases, short stature, and mild to moderate psychomotor retardation. Autosomal recessive inheritance is a possibility.

Abnormalities, Multiple↗
PubMed1986

Seasonal variation of neural tube defects in Newfoundland and elsewhere.

In Newfoundland, babies with anencephaly are conceived most often in January, and those with spina bifida in August. These and previous observations suggest that (1) seasonal fluctuations are greatest when the population frequency is neither very high nor very low, and that (2) the peak season for conception of anencephalic babies may occur in any season except August-November in various populations, whereas for spina bifida seasonal peaks are confined almost exclusively to May-August.

Anencephaly↗
PubMed1986

A simple technique for recording and counting sweat pores on the dermal ridges.

A simple method was devised for recording dermatoglyphics in a form suitable for sweat pore counting. Fifteen members of a family with a hypohidrotic X-linked ectodermal dysplasia made their own hand prints using our method and mailed the results to us for interpretation. The simplicity of the technique also makes it practical to use on new-born males at risk for the condition, or where dermatoglyphic records are required for other purposes. Preliminary data suggest that patchiness of sweat pore distribution on the fingers and palms may be useful in the discrimination of heterozygotes.

Adolescent↗
PubMed1986

Major gene determination of liability to spontaneous cleft lip in the mouse.

Two genetic analyses suggested that the spontaneous and low frequency trait of cleft lip (primary palate) in the mouse is determined either by a recessive gene at one autosomal locus or by two loci with duplicate epistasis. The low frequency trait of open eyelids, which is characteristic of the A/J strain and sometimes reported to be associated with cleft lip as part of a "syndrome," has not been analyzed genetically. A backcross and test-mating study between A/J and C57BL/6J, done originally to define the genetic control of embryonic tolerance to cortisone-induced cleft palate (secondary palate), was reanalyzed for the cleft lip and open eyelids traits. Cleft lip frequencies in A/J did not change in dose-response studies of either cortisone- or 6-aminonicotinamide-induced cleft palate; for both teratogens the frequencies of open eyelids differed between doses but did not exhibit any obvious dose response. It appeared that the frequency of 7.6% cleft lip and 17.6% open eyelids in A/J in the genetic study, in which all pregnant A/J test-females were treated with a single dose of cortisone (100 mg/kg, day 12), did reflect the occurrence of the spontaneous traits. Within the A/J strain, the traits were not associated and, as expected on outcrossing to C57BL/6J (A.B6 F1 fetuses), both traits are recessive. Significant bimodality of the cleft lip scores of the BC1 sires (BC2 fetuses), test-mated with A/J, suggested that liability to cleft lip is determined by a single autosomal recessive gene. The distribution of open eyelids scores of the BC1 sires did not differ from one normal distribution, and this trait is, therefore, controlled by more than one genetic locus with additivity between loci. Cleft lip and open eyelids segregated independently and do not form a syndrome, in A/J, with one underlying genetic cause. There was no association between cleft lip and three autosomal marker genes, brown (b, chromosome 4), albinism (c, chromosome 7) and H-2 (chromosome 17), or the genetically independent tolerance traits of cortisone- and 6-aminonicotinamide-induced cleft palate. There was significant association between open eyelids and albinism (c) that is in a direction suggesting linkage or pleiotropy. Whether liability of the embryo to cleft lip is determined by one or two genes may be solved by a concerted effort to map the trait; a marker gene will be the key to further analysis of its cause.

Animals↗
PubMed1985

Possible teratogenic effects of artificial insemination by donor.

Three trisomic offspring conceived by artificial insemination by donor (AID) were observed in a population in which a total of about 400 babies were so conceived. To test whether this excess represented a random fluctuation or a real effect of the AID procedure we surveyed, by questionnaire, a group of women who had born children conceived by AID. A significantly higher number of trisomic offspring were found than expected in a population with the observed age distribution. Further data are needed to test the validity of this observation.

Abortion, Spontaneous↗
PubMed1985

Congenital contractural deformities of the fingers and arthropathy.

Four patients are described who presented with congenital finger contractures and arthropathy. There was synovial cell hyperplasia and giant cells but no inflammatory process. Radiographs showed flattening of the metacarpal and metatarsal heads and the proximal femoral ossification centres. In the oldest patient the process had subsided leaving slight contractures but severe impairment of hip mobility. In another the arthropathy was still prominent in the early teens. In a third, finger contractures had failed to respond to conservative or surgical measures.

Contracture↗
PubMed1983

Autosomal dominant duplication of the renal collecting system, hearing loss, and external ear anomalies: a new syndrome?

We report two families in which propositi had severe bilateral sensorineural hearing loss, a preauricular pit or tag, and duplication of the ureters or bifid renal pelvices. Other relatives had one or more of these anomalies in a pattern suggesting autosomal dominant inheritance with reduced penetrance and variable expressivity. We suggest the term "branchio-oto-ureteral syndrome" to designate this condition.

Abnormalities, Multiple↗
PubMed1983

Panostotic fibrous dysplasia: a congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia.

We report a boy with unusual facial appearance, melanotic patches ("coast-of-Maine" type), myelofibrosis, recurrent femoral fractures, and widespread fibrous dysplasia of bone. Biochemical findings included raised serum alkaline phosphatase (bone isozyme) and 1,25-(OH)2 vitamin D, and low serum phosphorus levels. Elevated urinary excretion rates of total hydroxyproline, glycylproline, and gamma-carboxyglutamic acid indicated increased turnover of bone matrix. Transiliac bone biopsy showed a dearth of marrow elements, greatly increased bone turnover, and absence of normal trabecular organization. Serial radiographs showed progressive cortical thinning and loss of bony trabeculae. Calcitonin and etidronate treatments had no lasting effect on the progressive bone disease. The term "panostotic fibrous dysplasia" is suggested for this condition.

Alkaline Phosphatase↗