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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

At least 19 recordsLinked to original sources
PubMed1991

Bilateral complete polysyndactyly (type IV Haas).

We describe complete cutaneous syndactyly of all fingers and polydactyly in a 2-month-old girl. Based on 3 previous reports, this constitutes a separate entity (McKusick 18620) with probable autosomal dominant inheritance.

Female↗
PubMed1991

The Floating-Harbor syndrome.

We describe the seventh patient with the Floating-Harbor syndrome. Similar to previous cases in the literature this girl presented with proportionate intrauterine and postnatal growth retardation, normocephaly, triangular face with bulbous nose, long eyelashes, short upper lip, small vermilion border of upper lip, dorsally rotated ears, deep nuchal hair line, hirsutism, and clinodactyly of little fingers. She exhibited mental retardation and retarded speech development. Clinical symptoms and differential diagnosis of this rare syndrome are briefly discussed.

Abnormalities, Multiple↗
PubMed1991

[Tracheal agenesis. A case report].

A case of tracheal agenesis, a rare foregut malformation, is described. This malformation is combined with a tracheo-oesophageal fistula, furthermore with rectal and anal atresia, cardiac malformations, dysplastic kidneys, wedge-shaped vertebrae, and cerebellar hypoplasia. Since a tracheo-oesophageal fistula is a possible component of the VACTERL Association [(V) vertebral defects, (A) anal atresia, (C) cardial malformations, (T) tracheo-(E)-oesophageal fistula, (R) renal or (L) limb malformations], similar cases are reviewed from the literature and their relationship to this association is discussed.

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↗