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Biomedical subjects

N Fitch

Publications and source records attributed to N Fitch.

51 records · Page 3Linked to original sources

Dominant ichthyosis vulgaris with an ultrastructurally normal granular layer.

It has been suggested that ultrastructural studies of keratohyalin granules in the granular layer of the skin can clearly distinguish the dominant type from the X-linked recessive type of ichthyosis vulgaris. The distinctive features are found in the granular layer and the keratohyalin granules. In the dominant form the granular layer is absent or reduced in size and the keratohyalin granules are minute and crumbly in appearance. In the recessive form the granular layer and keratohyalin granules are normal. A family which probably has dominant ichthyosis vulgaris is described. The stratum granulosum and keratohyalin granules as determined by both light and electron microscopy are normal. In view of the inconstant morphologic appearance of the stratum granulosum in ichthyosis vulgaris, it is suggested that distinction between the dominant and X-linked forms should not be based on the structural characteristics of the granular layer alone, but rather on a combined evaluation of the pedigree, clinical features and the appearance of the stratum granulosum.

Adolescent↗

Adducted thumb syndromes.

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dysmyelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re-assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex-linked hydrocephalus.

Abnormalities, Multiple↗

The pathogenesis of Potter's syndrome of renal agenesis.

Current views of the pathogenesis of Potter's syndrome of renal agenesis are discussed. Embryological, teratological and genetic associations between kidney and limb development are reviewed. An infant is described with lobsterclaw deformity of the hands and feet, renal hypoplasia and the Potter face.

Abnormalities, Multiple↗

The temporal bone in the preauricular pit, cervical fistula, hearing loss syndrome.

Histological study of the temporal bones of an infant with the preauricular pit, cervical fistula, hearing loss syndrome revealed abnormalities in the middle ear, the vestibular system, and the cochlea. There is a gross bilateral abnormality in the form and relationship of the middle ear spaces, the middle cranial fossa and the inner ear. The horizontal canal lacks ampulla and crista; the posterior canal terminates a short distance from the ampulla. The cochlear cavity is approximately four fifths of normal size. The modiolus of the cochlea shows minor abnormalities. Spiral ganglion cells and peripheral nerve fibers are present in all coils, but are below normal in population in the basal and apical coils. The stria vascularis is slightly deformed and partly atrophic in the upper apical coil. An occasional concretion is present in the base of the stria vascularis in the middle and apical coils.

Adult↗