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R Herva

Publications and source records attributed to R Herva.

At least 73 records · Page 4Linked to original sources
PubMed1987

A syndrome with juvenile cataract, cerebellar atrophy, mental retardation and myopathy.

Four patients of two families with clinical characteristics resembling those in Marinesco-Sjögren syndrome are presented. All patients had infantile hypotonia as the presenting sign. In preschool age ataxia, cataract and mental retardation manifested. CT scan revealed cerebellar atrophy. Muscle biopsy showed myopathic changes with vacuolar degeneration and marked adipose tissue proliferation. Electron microscopy showed myelin bodies and autophagic vacuoles. The conclusion is that the peculiar myopathic and degenerative findings in the muscle biopsy are a consistent morphological feature in the clinical entity of the patients and the syndrome is distinctive from Marinesco-Sjögren syndrome.

Adolescent↗
PubMed1986

Prognostic signs in fetal hydrocephalus.

An antenatal diagnosis of fetal hydrocephalus was made in 38 cases. Using certain criteria for the assessment of fetal prognosis, 23 cases were considered to be severely affected. Postnatal evaluation of these 23 cases established the extensive severity of fetal abnormality in all cases. The prognosis was estimated to be more favorable in 10 cases, of which 8 were delivered by elective cesarean section and 2 by spontaneous vaginal delivery. In 9 cases a ventriculoatrial shunting procedure was performed early in the neonatal period, while 1 case was treated conservatively. Follow-up of these 10 cases (at 7 months to 5 years of age) revealed normal or subnormal development in 6 cases and severe retardation in 4. Fetal hydrocephalus proved to have several etiological causes and was associated with other anomalies in 84% of cases. Severe forms of fetal hydrocephalus can, by means of modern ultrasound techniques, be detected before the 20th gestational week. Some cases of fetal hydrocephalus progress slowly during the fetal period. These can be followed until term by repeated ultrasound examinations and good or moderate prognosis can be expected with the use of early postnatal therapy. Only a minority of hydrocephalic fetuses seem to be potential objects for antenatal shunting.

Cerebral Ventricles↗
PubMed1985

A lethal autosomal recessive syndrome of multiple congenital contractures.

We describe 16 cases of a lethal syndrome with multiple congenital contractures from ten families. The main clinical findings included intrauterine growth retardation with marked fetal hydrops, multiple contractures, and facial abnormalities, especially micrognathia. At autopsy, pulmonary hypoplasia and muscular atrophy were present. There was a paucity of anterior horn motor neurons in the four studied cases. We think that the cases represent the same clinical entity, probably caused by homozygosity of an autosomal recessive gene. The syndrome resembles the Pena-Shokeir I syndrome, but seems to differ in some respects, including length of survival and presence of hydrops. Prenatal diagnosis of this syndrome is possible after the 16th week of pregnancy with ultrasound.

Contracture↗
PubMed1985

Multisynostotic osteodysgenesis.

A sporadic case of multisynostotic osteodysgenesis is reported in a 15-day-old female infant with urogenital abnormalities. The main radiological findings were craniosynostosis, radiohumeral synostosis, femoral bowing and fractures. The typical combination of clinical and radiologic findings allow the ready recognition of this syndrome. Seven earlier cases have been reported, five sporadic and one familial; in two sisters.

Abnormalities, Multiple↗
PubMed1985

The incidence of Down syndrome in northern Finland with special reference to maternal age.

The incidence of live-born children with Down syndrome was found to be 1.73/1000 (1:578) in northern Finland over the years 1965 to 1979. Despite a marked reduction in the proportion of older mothers, no significant change in the incidence was observed. Instead, an age-specific rise in the incidence for mothers aged 25 to 29 years could be shown during the last five-year period in years 1975 to 1979.

Adult↗
PubMed1984

Familial congenital diaphragmatic defects: aspects of etiology, prenatal diagnosis, and treatment.

We present 14 familial cases from five Finnish families affected with a life-threatening congenital diaphragmatic defect (CDD) and review data on 53 previously published familial cases. CDD occurred in three sibs and their half brother's son, and probably in all four offspring of parents consanguineous as both first and second cousins. In the remaining three Finnish families and in the vast majority of the previously reported familial cases, only two sibs were affected. Two thirds of those affected were males both in the Finnish and the overall series. Pedigree data, delayed fusion of the diaphragm as the primary pathogenetic mechanism, varying anatomical structure of the defective hemidiaphragm, association with other congenital anomalies, and data on animal experiments are more in accordance with multifactorial determination than with recessive inheritance. This does not exclude other genetic causes in some familial cases. The recurrence risk for sibs after one affected sib is about 2%. As the prognosis, especially in familial cases of CDD has remained grave, the development of fetal surgical treatment is desirable. This emphasizes the future role of prenatal diagnosis by ultrasound.

Consanguinity↗
PubMed1984

Amniotic adhesion malformation syndrome: fetal and placental pathology.

We describe 11 severely damaged fetuses, their placentas, and defective membranes involved in the amniotic adhesion malformation syndrome. The constantly abnormal relation between the fetus and placenta, the absence of the free umbilical cord, the extremely short umbilical cord, common absence of an umbilical artery, and severe malformations in internal organs suggest that instead of a single rupture of the amnion, the early germinal disk might have been defective. We have no clue of possible cause. Heredity seems to be improbable; the most likely explanation is a teratogenic condition during early pregnancy.

Amniotic Band Syndrome↗
PubMed1984

Roentgenologic findings of the hydrolethalus syndrome.

The hydrolethalus syndrome is an autosomal recessive malformation syndrome which has been recently described in Finland. The name hydrolethalus refers to the main findings, namely polyhydramnios, hydrocephalus and lethality. The patients are either stillborn or die soon after birth. The typical roentgenologic findings are hypoplasia of the tibia associated with the anomalies of the respective bone ray, e.g. metatarsus primus varus atavisticus, hallux varus or hallux duplex varus and hydrocephalus with extreme micrognathia and a specific midline defect of the occipital bone.

Abnormalities, Multiple↗
PubMed1984

Correlation of human chorionic gonadotropin secretion in early pregnancy failure with size of gestational sac and placental histology.

The relationships between maternal plasma human chorionic gonadotropin (hCG) levels, the gestational sac diameter, and histopathologic findings in the placenta were studied in 99 cases of bleeding during the sixth to 15th weeks of pregnancy. In cases of threatened abortion with a successful outcome of pregnancy, the maternal hCG levels and gestational sac diameter were normal, the correlation being significant during weeks seven to ten. In cases of blighted ovum and missed abortion, both the hCG concentration and gestational sac diameter were usually normal during the sixth to eighth weeks of pregnancy. After the ninth week nearly all gestational sac diameters were under the normal range, whereas normal plasma hCG levels were detected occasionally until the 14th week in these doomed pregnancies. Villous structures were histologically normal in ten of the 31 cases of blighted ovum and missed abortion. However, only two of these ten cases showed normal hCG levels and only one had a normal gestational sac diameter immediately before abortion. The results suggest a correlation between the hCG secretion of the trophoblast and gestational sac diameter in cases of bleeding during the early weeks of pregnancy, both in successful and unsuccessful outcome. Normal hCG levels in maternal plasma and nonpathologic histologic findings in the placental tissue often appear to be present in cases of blighted ovum and missed abortion until the second trimester without any mutual correlation.

Abortion, Missed↗
PubMed1983

Prenatal detection of hydrolethalus syndrome.

The prenatal diagnosis of hydrolethalus syndrome is presented on the basis of seven cases. The results demonstrate the primary importance of ultrasonography in the evaluation of this type of malformation. Already in early pregnancy, the intracranial abnormalities and the accelerated growth rate of the fetal head are demonstrable by ultrasound more easily than in ordinary 'simple' hydrocephalus. Diagnostic amniocentesis in early pregnancy proved to be useless because alpha-fetoprotein levels and chromosomal status were normal.

Abnormalities, Multiple↗
PubMed1983

Roentgenologic features of the Meckel syndrome.

The Meckel syndrome is an autosomal recessive lethal malformation syndrome. The main features are multicystic dysplastic kidneys, microcephaly with occipital encephalocele and polydactyly. This paper describes 6 new cases, with special reference to skeletal findings in postmortem total body radiographs. Microcephaly with an occipital bone defect and encephalocele or hydrocephaly [1/6], short upper extremities, bell-shaped thorax with abdominal distension and postaxial polydactyly in the hands and feet were constant findings in these cases.

Abnormalities, Multiple↗
PubMed1983

Intra-uterine growth and fatal fetal abnormality.

To study intra-uterine growth in pregnancies complicated by fatal abnormality of the fetus, 73 pregnancies involving fetal or neonatal death caused by malformation, chromosomal aberration or Mendelian disease were evaluated. Small-for-gestational age newborns were found in 45% of the patients, and this finding was typical of 18-trisomies, amnion adhesion syndrome fetuses and multimalformed fetuses. Pregnancies affected by a Mendelian disease or a single fetal malformation mostly presented normal intra-uterine growth. In 25% of the patients, the symphyseal-fundal growth was retarded; this retardation started on average in the 25th gestational week. Polyhydramnios was present in 30% of the patients and was expressed in growth acceleration of the symphyseal-fundal measurement from the 28th gestational week. In 45% of the small-for-gestational-age fetuses the biparietal growth showed low profile type retardation. The brain-sparing phenomenon in growth was found in 21%. To assess the prospects of the conceivable modes of treatment, the need for an exact diagnostic evaluation of all pregnancies complicated by intra-uterine growth retardation and a consideration of the need for diagnostic amniocentesis in cases of early growth retardation is emphasized. This also applies to the time after legal abortion.

Birth Weight↗