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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

At least 55 records · Page 3Linked to original sources
PubMed1982

Mental retardation, hypotonia, obesity, ocular, facial, dental, and limb abnormalities (Cohen syndrome). Report of three patients.

Three patients with features of the Cohen Syndrome are reported. Main facial features are prominent nasal bridge, short philtrum, prominent upper central incisors, and retrogenia. There is microcephaly and short stature. Truncal obesity appears in mid childhood. Mental retardation seems to be severe. There is marked variability among the as yet reported cases. The best diagnostic criteria seem to be the typical face and mental retardation. As yet 3 affected sibs, offspring of healthy, non consanguineous parents are reported, as well as 8 sporadic cases. The condition seems inherited as auto-somal recessive. The variability of this condition is discussed.

Abnormalities, Multiple↗
PubMed1981

The Kenny syndrome, a rare type of growth deficiency with tubular stenosis, transient hypoparathyroidism and anomalies of refraction.

One family (3 cases) with the Kenny syndrome and a second family (3 cases) with features of Kenny syndrome but lacking medullary stenosis are reported. The main symptoms in both families are proportionate dwarfism, cortical thickening of tubular bones, variable anomalies of the calvaria, anemia, transient hypoparathyroidism and variable ocular anomalies. The latter include microphthalmia, and moderate-to-severe myopia or hyperopia. In the first family there was medullary stenosis of most tubular bones. In the second family two cases exhibited mild-to-moderate cortical thickening of tubular bones, but absent or mild medullary stenosis. Possible variability of the Kenny syndrome is discussed. Endocrine studies failed to demonstrate any permanent disturbance of parathormone or calcitonin metabolism, or GH deficiency. Pathogenesis remains unclear. Autosomal dominant inheritance seems to be likely.

Adolescent↗
PubMed1981

Alcohol embryopathy: some facts and speculations about pathogenesis.

Signs and symptoms of 108 cases with alcohol embryopathy are presented. In addition to the well-known features (e.g., intrauterine growth retardation, microcephaly, mental retardation and typical craniofacial abnormalities), 29% of the cases had heart defects, 10% had G.U. tract malformations, and 1.8% had spina bifida. Brain malformations of 3 cases and 4 fetuses are described. Auxological measurements demonstrated some catch-up growth for height, but none for head size. Facial anomalies tended to normalize with increasing age. A proposal for classifying alcohol embryopathy (AE) into 3 degrees of severity is presented. Cases with the mild degree showed milder (or no) mental retardation compared to cases with the severe degree. The degree of AE was related to the stage of maternal alcoholism. With increasing severity of maternal alcoholism, the frequency and severity of AE among the offspring increased too. Among siblings, the elder siblings were less affected than the younger. This difference in outcome might be caused by the increasing inability of the alcoholic mothers to metabolize acetaldehyde. It is hypothesized that embryonic disturbance is not as dependent on the amount of daily alcohol consumption as it is on the stage of maternal alcoholism.

Abnormalities, Drug-Induced↗
PubMed1980

[Craniofacial amniogenic malformations within the Adam complex (author's transl)].

Four children are described with amniotic deformities in the craniofacial region. Besides encephaloceles, hydrocephalus, facial clefts, amniotic bands and furrows we observed in three of these children the deformities of the extremities which are characteristic of amniogenic malformations, such as syndactylias and mutilations, associated with ring constructions. The article describes the state of knowledge with regard to pathogenesis. Epidemiology of the disease permits to assume a very low risk of repeat occurrence with the parents concerned.

Abnormalities, Multiple↗
PubMed1979

Alcohol embryo- and fetopathy. Neuropathology of 3 children and 3 fetuses.

Maternal chronic ethanol abuse during pregnancy causes malformations of the offspring. Three children (aged 6 months, 9 months, 4 1/2 years) and 3 fetuses (17th, 18th, and 20th gestational week) showed a wide spectrum of disorders ranging from severe dysraphic state, arhinencephaly, porencephaly, agenesis of corpus callosum, a range from hydranencephaly to microdysplasias (p.e. reduced gyration of dentate nucleus and inferior olives), and a range from gastrochisis or congenital heart defects to craniofacial dysmorphogenesis and palmar crease anomalies. The patterns of the cerebral malformations were not as uniform as the clinical phenotype of the alcohol embryopathy. The observations did not support the assumption that there exists a specific period for alcohol teratogenicity.

Abnormalities, Drug-Induced↗
PubMed1979

Alcohol embryopathy and diabetic fetopathy in the same newborn.

Both alcohol embryopathy and diabetic fetopathy were observed in the same female child. The mother was known to be alcoholic as well as diabetic. At birth the signs of diabetic fetopathy predominated: the child showed edematous subcutaneous fat, birth weight was 3650 g. The heart was enlarged. The patient's blood sugar levels ranged from 0 to 1.4 mMol/1 (0-25 mg/dl). Features of alcohol embryopathy were typical craniofacial dysmorphy, hypotonia of muscles and hyperexcitability. Later on the features of alcohol embryopathy predominated: the child became dystrophic with pronounced microcephaly, and the craniofacial dysmorphy clearly resembled other patients with alcohol embryopathy. This observation is in favour of the hypothesis, that alcohol induces cell hypoplasia in the embryo resulting in postnatal growth retardation. Maternal and consequently embryonic and fetal hyperglycemia induced cell hypertrophy in the embryo and fetus, which compensated the effect of alcohol on birth weight in our patient.

Abnormalities, Multiple↗
PubMed1978

No elevation of exchange type aberrations in lymphocytes of children with alcohol embryopathy.

The lymphocyte chromosomes from 23 children with the 'fetal alcohol syndrome' or 'alcohol embryopathy' (AE) were analyzed with respect to exchange type aberrations. These aberrations were not more frequent in AE than in controls. The possibility that AE results from unspecific suppression of RNA and consequently of protein synthesis in the developing embryo is discussed.

Abnormalities, Multiple↗
PubMed1978

Furrows and dermal ridges of the hand in patients with alcohol embryopathy.

Palmar creases and dermal ridge patterns of 34 patients with alcohol embryopathy are compared with 470 healthy individuals. In alcohol embryopathy several typical deviations were noted. Palmar Creases. The interdigital part of the distal palmar crease is generally sharply bent, the proximal transverse crease is hypoplastic or missing, the thenar crease is commonly well marked. Simian creases and bridged palmar creases are more common in patients with alcohol embryopathy than in healthy individuals. Ridge Patterns of the Palm. The main line D coming from triradius d in patients with alcohol embryopathy mostly shows a low type of ending in the fourth interdigital area; in this area loops are twice as common as in healthy individuals. Patterns of the Fingertips. No deviations were noted in the distribution of whorls and loops, but virtually no arches were observed in patients with alcohol embryopathy. These anomalies suggest embryonic damage in the twelfth week of gestation.

Abnormalities, Multiple↗
PubMed1978

[Interruption of pregnancy in alcoholic women (author's transl)].

Basing on previous experience, with alcohol embryopathy the authors recommended interruption of pregnancy in three chronic alcoholics, two of whom were in the chronic phase and one in the critical phase of alcohol addiction. All the three fetuses were hypertrophic, two severely malformed. In the authors' opinion there is eugenically speaking an absolute indication of interruption of pregnancy in alcoholics in the chronic phase of addiction. In women who are in the critical phase of addiction, each case requires close scrutiny, whereas interruption is not indicated from the eugenic aspect in women in the prodromal stage.

Abnormalities, Drug-Induced↗
PubMed1978

[Familiary arhinia combined with peters' anomaly and maxilliar deformities, a new malformation syndrome (author's transl)].

A report is given on two sisters with arhinia, hypertelorism, Peters' anomaly and deformities of the maxilla. The lacrimal sacs in both patients were extirpated because of recurrent dacryoadenitis due to bilateral aplasia of the nasolacrimal ducts. One eye showing Peters' anomaly with microphthalmus was enucleated in the elder patient 12 years ago. Differential diagnosis includes frontonasal dysplasia and the different types of holoprosencephaly-syndromes. Probably this new malformation syndrome is a recessive inherited.

Abnormalities, Multiple↗
PubMed1977

Type and frequency of cardiac defects in embryofetal alcohol syndrome. Report of 16 cases.

Within a period of 3 years, 56 infants and children with embryofetal alcohol syndrome have been detected and examined for heart defects. All children were from mothers who had been addicted to alcohol even during pregnancy and they showed a typical pattern of malformations, as described by Lemoine et al. (1968) and Jones et al. (1973). In 16 cases cardiovascular malformations were confirmed by heart catheterisation or pathological examination. The overall incidence of heart defects in this syndrome was 29 per cent. The incidence rises to nearly 50 per cent in the more severe types of this syndrome. Atrial septal defects were found to be the most common heart defect (10 out of 16 cases); ventricular septal defects and other variable malformations occurred less frequently. The high incidence of heart defects indicates that alcoholism during pregnancy has to be considered as a serious and preventable cause of congenital heart disease.

Abnormalities, Drug-Induced↗
PubMed1977

[On certain embryopathies induced by teratogenic agents (author's transl].

In a survey of the literature the teratogenic effects of radiation and some drugs are discussed. Teratogenicity is proved for thalidomide, aminopterin, busulfan, cyclophosphamide, chlorambucil, mercaptopurin and diphenylhydantoin, trimethadione and warfarin. After the thalidomide-tragedy drug-induced malformations of the embryo are extremely rare, whereas malformations due to alcohol are rather frequent. Own experiences with more than 70 patients with alcoholembryopathy are reported. Nicotin seems not to be teratogenic, but due to nicotin the perinatal mortality is elevated. The questionable teratogenic effects of Heroin and LSD are discussed.

Abnormalities, Drug-Induced↗