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Biomedical subjects

R Norio

Publications and source records attributed to R Norio.

At least 73 records · Page 4Linked to original sources
PubMed1982

Familial intra-areolar polythelia with mammary hypoplasia.

Dysplastic divided nipples (intra-areolar polythelia) have been found bilaterally in a mother, her two daughters and one son. Two of the patients had mammary hypoplasia, one had unilateral hypoplasia of the pectoral muscle and duplication of the renal pelvis and ureter. The mammary findings are consistent with autosomal dominant inheritance. Whether they represent a new mammo-renal syndrome is uncertain. Reconstructive surgery was performed on two patients. Due to the deformity the mother was unable to nurse her children; following reconstructive surgery the daughter was able to feed her baby normally.

Adult↗
PubMed1981

The hydrolethalus syndrome: delineation of a "new", lethal malformation syndrome based on 28 patients.

We describe a lethal malformation syndrome in 28 newborn infants from 18 families. The main manifestations were hydrocephalus (often with an unusual structure of the brain and the occipital bone), very small mandible, polydactyly, congenital heart defect, abnormalities of the respiratory organs, and (different from the Meckel syndrome) normal kidneys. Polyhydramnios and stillbirth or neonatal death were the rule. Autosomal recessive inheritance is evident. This syndrome is another in the group of rare recessive disorders which are found in Finland. Because of the 25% recurrence risk and possibilities for prenatal diagnosis, this syndrome should be recognized by paediatricians and, because of the frequent stillbirths, also by obstetricians and pathologists. The name hydrolethalus syndrome (hydramnios, hydrocephalus, lethality) may be of help in this.

Abnormalities, Multiple↗
PubMed1979

Progressive myoclonus epilepsy: genetic and nosological aspects with special reference to 107 Finnish patients.

In 107 Finnish patients with progressive myoclonus epilepsy (PME), belonging to 74 families, autosomal recessive inheritance was evident. The sex ratio was 48:51, the corrected proportion of affected sibs being 0.260. Of 68 marriages 15, or 22%, were consanguineous; several of the parents were related and the geographical distribution was of the uneven type typical of young, isolated populations in Finland. The incidence in Finland was estimated to exceed 1:20,000. The clinical picture in the Finnish PME patients was uniform, being identical with that of Unverricht's and Lundborg's patients, but clearly distinct from Lafora disease. The following classification of PME is proposed: (1) PME, Lafora type: onset of grand mal attacks and/or myoclonus around the 15th year of life; rapid and severe mental deterioration, often with psychotic symptoms; short survival; histological finding of Lafora bodies; autosomal recessive inheritance. (2) PME, Unverricht-Lundborg type: onset around the 10th year of life; severity variable, progressive invalidity from myoclonic features associated with mild mental symptoms, time of survival variable, "degenerative" histological changes; autosomal recessive inheritance. (3) Autosomal dominant or otherwise atypical cases of PME. The importance of accurate diagnosis is stressed.

Adolescent↗
PubMed1978

Familial occurrence of lumbar spondylolysis and spondylolisthesis.

In a Finnish kindred consisting of 192 descendants from two marriages of a male ancestor born in 1868, the lumbar spines of 105 of the 170 living members were X-rayed. Spondylolysis was found in 22 individuals. In addition, six of them had spondylolisthesis, four had spina bifida occulta, and two had a transitional lumbar/sacral vertebra. Seven members of the kindred without spondylolysis had spina bifida occulta and 10 had transitional lumbar vertebrae. The pedigree is consistent with autosomal dominant inheritance and incomplete (about 75%) penetrance for spondylolysis. It raises the question of a common aetiology for several congenital disturbances in the formation of lumbar vertebrae and possibly supports the concept of variable expressivity of a "spondylolysis gene".

Female↗
PubMed1976

Atrial myxoma in a family.

A family is described in which the mother and three of seven children had atrial myxoma. The mother had biatrial myxoma; surgical treatment resulted in massive intraoperative embolization and death. Surgery was sucessful in two sons with left atrial myxoma and systemic arterial embolization. A third son had calcified right atrial myxoma with destruction of the tricuspid valve and episodes of syncope and pulmonary embolism; surgery including valve replacement, was successful. The mother's father and a brother had died suddenly without a definite diagnosis. The family data are consistent with dominant transmission. The possibility of finding affected relatives should be borne in mind when studying patients with atrial myxoma.

Adolescent↗
PubMed1975

Thickenings in the coronary arteries in infancy as an indication of genetic factors in coronary heart disease.

In Finland, mortality from coronary heart disease is high, and much higher in the eastern than in the western countries. Both left and right coronary arteries of 141 children who died under one year of age at the Children's Hospital, University of Helsinki, were investigated. Thirty-two of these children formed a western and 41 an eastern group according to the birthplaces of their grandparents in Finland. Correlations were tested between this geographical distribution and some dimensions of the coronary arteries, as well as other clinical variables. The inner vascular layers of the left coronary arteries were found to be thicker in the eastern group (P less than 0.05 in analysis of variance and P less than 0.01 in regression analysis). No other significant correlations were observed. This association of infants having thick inner vascular layers in the coronary artery with a population group where mortality from coronary heart disease (CHD) is very high supports the hypothesis that the thickenings are prearteriosclerotic. The difference found between the arteries of the western and eastern groups might be due to a difference in the vulnerability of the inner vascular wall to extrinsic deleterious factors. The association substantiates the existence of a genetic component in the etiology of CHD and supports the theory that two separate groups of settlers originally colonized Finland.

Age Factors↗