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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

87 records · Page 5Linked to original sources
PubMed1976

[On the embryo-fetal alcohol syndrome (author's transl)].

The symptomatology in 24 patients with the embryo-fetal alcohol syndrome in this study corresponded essentially to the clinical picture described by Lemoine et al., and Jones et al., although we were not able to confirm the maxillary hypoplasia and microphthalmia mentioned in the latter. In addition, we observed in 2 girls a virilization of the genitalia which corresponded to female pseudohermaphroditism. Auxologically a nearly regular pattern of the parameters measured was found. The intra-uterine hypotrophy continues after birth. In particular, the head circumference, reflecting the brain growth, remains low. The cerebral damage leads to oligophrenia with a typical pattern of psychic and motor behaviour. Moderate cases tend to improve. Concerning the pathogenesis, the clinical observations in connexion with recent animal experiments permit the following conclusions. Neither the malnutrition nor the liver damage of the mothers are necessary presuppositions. Ethanol itself appears to play the main teratogenetical rôle. Acetaldehyde, which is the primary metabolite of ethanol, is cytotoxic too. However, the liver of the embryo and the fetus, in consequence of its deficient alcohol dehydrogenase content, is not able to metabolize ethanol.

Abnormalities, Drug-Induced↗
PubMed1976

[A new (brachymelic) type of primordial dwarfism (author's transl)].

Second report of an apparently new type of primordial dwarfism characterized by severe intrauterine and postnatal growth retardation, striking craniofacial deformities and a peculiar osteochondrodysplasia. The major clinical findings are microcephaly, hypotrichosis, bulging eyes, prominent nose, micrognathia and short extremities. The osteochondrodysplasia is characterized by short and bowed humeri and femora with absent ossification of the femoral necks, small and dysplastic iliac wings, strikingly retarded ossification of the epiphyses and shortened metacarpal I and middle phalanges II-V. Possible this condition is caused by the homozygous state of mutant gene. The brachymelic type of primordial dwarfism differs from other forms of primordial dwarfism (particularly from case I of Seckel) by its skeletal abnormalities. The cases described by Seckel (and sometimes referred to as Seckel or bird-headed dwarfism) are heterogenous: Seckel dwarfism apparently does not exist as a nosologic entity.

Abnormalities, Multiple↗
PubMed1976

[Cardiovascular malformations in embryofetal alcohol syndrome (author's transl)].

17 infants and children with embryofetal alcohol syndrome were examined of cardiovascular malformations. In 8 cases heart catheterization revealed malformations, mainly atrial septum defects (in 5 of 8 cases), only in one case a ventricular septum defect, in another case an aplasia of the right pulmonary artery and in one case a mild outflow tract obstruction of the left ventricle. Congenital heart diseases can be expected in nearly 50% of the cases in embryofetal alcohol syndrome.

Alcoholism↗
PubMed1975

A rare type of low birthweight dwarfism: the Dubowitz syndrome.

Two patients with the Dubowitz syndrome are presented. This presumably recessive inherited syndrome was first defined by Grosse et al. (1971). So far 11 patients with this syndrome have been described. Major clinical findings are intrauterine and postnatal growth retardation, considerable microcephaly, mild mental retardation, hyperactivity, hyperextensibility of joints, eczema and a characteristic appearance of the face due to marked epicanthic folds, blepharophimosis, broadening of the bridge and tip of the nose and retrognathia. Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen. The exclusion of the non genetic fetal alcohol syndrome presents serious diagnostic problems.

Birth Weight↗
PubMed1975

[Reciprocal translocation t (5p--;19p+) in three generations (author's transl)].

A reciprocal translocation t (5p-;19p+) in 3 generations is reported. Three carriers with this translocation were healthy, the propositus with the same translocation showed cheilopalatochisis bilaterally, microphthalmus, coloboma of the retina and dysplasia of the hip joints. The cytogenetically unremarkable father of the propositus exhibited micropthalmus and coloboma of the disc and a bifid uvula. It was supposed that there is no correlation between caryotype and phenotype in the propositus. His abnormalities might be induced genetically by the father. The risk data for the descendants of carriers with balanced translocations are discussed.

Child, Preschool↗
PubMedDate not supplied

Pallister-Killian syndrome in older children and adolescents.

The Pallister-Killian syndrome is caused by a mosaic tetrasomy of the short arm of chromosome 12. Although analysis of peripheral blood lymphocytes usually reveals a normal karyotype, an isochromosome 12p mosaicism is detectable in fibroblast cultures; therefore, in this rare chromosomal aberration, clinical recognition is crucial for appropriate cytogenetic investigations. The phenotype of younger children has already been well documented. During childhood and adolescence, however, the phenotype changes markedly. The disorder in older children and young adults is characterized by a coarse and flat facies, macroglossia prognathia, everted lower lip, and severe psychomotor retardation with muscular hypertonia and contractures. Two severely mentally retarded patients are reported whose diagnoses were confirmed by fibroblast cultures at ages 16 and 21 years.

Abnormalities, Multiple↗