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Biomedical subjects

G Granroth

Publications and source records attributed to G Granroth.

10 recordsLinked to original sources

de la Chapelle dysplasia.

Since the description by de la Chapelle and colleagues of two sibs with a unique skeletal dysplasia, two additional cases have occurred, one in the original Finnish family and one sporadic patient born to unrelated parents of Belgian descent. The original Finnish family has later had a fourth child, a normal daughter who was found to be unaffected upon radiographic examination in the 19th week of gestation. These additional findings are compatible with recessive inheritance. Physical features common to these four patients include cleft palate, small thorax, moderately severe micromelia with small hands, and equinovarus deformity. In each case, the ulnae and fibulae were reduced to an almost triangular osseous remnant. Other long bones were short and bowed. Neonatal death occurred in all cases and may be attributed to a consistent triad of respiratory tract malformations: laryngeal stenosis, tracheobronchomalacia, and pulmonary hypoplasia. Clinical and radiographic features are sufficiently unique to distinguish de la Chapelle dysplasia from other disorders in the spectrum of neonatal lethal osteochondrodysplasias. Lacunar halos were identified as a distinctive histopathologic feature also observed in achondrogenesis but not in several other skeletal dysplasias.

Belgium

Defects of the central nervous system in Finland. IV. Associations with diagnostic x-ray examinations.

Based on the Finnish Register of Congenital Malformations a search was undertaken to find possible associations between defects of the CNS and diagnostic x-ray examinations of the mother during pregnancy as well as pelvic x-ray examinations prior to pregnancy. Time-area--matched pregnancies and polydactylic children were used as controls. The risk of having a microcephalic child was increased for mothers with pelvic x-ray prior to pregnancy, but the number of discordant pairs was small. Of the examinations performed during pregnancy, fetal x-ray was significantly more common among mothers who delivered a CNS-defective child. No associations were observed for other kinds of examinations.

Abnormalities, Radiation-Induced

Defects of the central nervous system in Finland: III. Disease and drugs in pregnancy.

The matched pair system of the Finnish Register of Congenital Malformations was used to search for association between defects of the central nervous system (CNS), and maternal diseases and/or drug consumption during pregnancy. The study material consisted of 710 cases with CNS defects and their controls. Significant associations were found for the following conditions: influenza, threatened abortion, depressive state, toxemia of pregnancy, diabetic mothers, and for the consumption of the following drugs: salicylates, pyrazolones/anilines, euphoristic analgesics, sympathomimetics, barbiturates, and cough medicines. 259 cases with polydactyly and their controls were also compared, with a view to demonstrating what biases might be introduced by the case-control method. After utilizing the possibilities of this design for examining the above mentioned significant associations, the factors to be seriously considered were reduced to the following ones: influenza, depressive state, toxemia of pregnancy, diabetic mothers and cough medicines.

Abnormalities, Drug-Induced

Defects of the central nervous system in Finland: V. Multivariate analysis of risk indicators.

Based on the Finnish Register of Congenital Malformations a search was undertaken for associations between defects of the central nervous system [CNS] and various selected risk indicators. The study material consisted of 710 cases of CNS defects and their time-area matched pair controls. 259 cases of polydactyly and their controls were also compared with a view of demonstrating the possible biases introduced by the case-control method. The present report is a multivariate analysis of previously observed associations, and the linear logistic regression model was used for the elimination of confounding factors. Risk indicators remaining after the analysis were high maternal age, multipara with previous stillbirths and defective children, especially defects of the CNS. Maternal influenza, especially in combination with the intake of salicylates, was also associated with an increased risk.

Central Nervous System

Defects of the central nervous system in Finland: I. Variations in time and space, sex distribution, and parental age.

Data from the Finnish Register of Congenital Malformations for the years 1965-73 were used in a search for associations between environmental influences and defects of the central nervous system (CNS). The material consisted of 710 cases of CNS defects and their matched-pair controls. Moreover, and 'internal' control group of 259 cases of polydactyly and their matched-pair controls were used. The first report gives information on variations in time and space, sex distribution, and parental age. A higher incidence of anencephaly was noted in the eastern part of the country, but no significant secular or seasonal variations were found. The sex ratio (M/F) was lower than expected in the groups of anencephaly and CNS defects as a whole. High parental age turned out to be a risk factor in the group of all CNS defects, mainly owing to the subgroup of hydrocephaly. The dangers of observational studies due to confounding factors are discussed.

Adult