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Biomedical subjects

F C Fraser

Publications and source records attributed to F C Fraser.

At least 145 records · Page 8Linked to original sources
PubMed1971

A new chondrodystrophic mutant in mice. Electron microscopy of normal and abnormal chondrogenesis.

The occurrence of a new mutation affecting cartilage and bone in mice is reported. The gene is lethal, shows autosomal recessive inheritance, and has high penetrance. It is not allelic to shorthead and probably not to phocomelia or achondroplasia. It results in a foreshortened face, cleft palate, defective trachea, and shortened long bones with flared metaphyses. Chondrocytes of epiphyseal cartilage from the mutant are not aligned in columns, and there is a decrease in the usual staining of the cartilage matrix. Electron microscope observations show large, wide collagen fibrils with "native" banding in the matrix of mutant cartilage, which are not present in normal cartilage. Possible explanations for the expression of this genetic disorder of cartilage development are put forward.

Animals↗
PubMed1971

Familial holoprosencephaly.

The authors report a family in which several individuals were born with various anomalies of the face and brain. An analysis of the pedigree supports the hypothesis that a single gene defect with variable expressivity and reduced penetrance is responsible for the familial faciocerebral syndrome described which may range from fusion of the eyelids to various combinations of bilateral or median cleft lip and palate, absent nose and single brain ventricle.

Abnormalities, Multiple↗
PubMed1971

Facial features associated with predisposition to cleft lip.

Teratologic studies have led to the hypothesis that, in the mouse, face shape is the underlying basis for the susceptibility to cleft lip. To see if this may hold true in man superficial facial dimensions, face shape and relation of lips have been recorded in a series of parents of children with cleft lip and in a control population. Preliminary results suggest that there are differences between the two populations that support the hypothesis.

Cephalometry↗