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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

At least 73 records · Page 4Linked to original sources
PubMed1983

Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.

Abnormalities, Multiple↗
PubMed1983

Repeated surveillance of exposure to thallium in a population living in the vicinity of a cement plant emitting dust containing thallium.

From 1979 to 1981, several medical surveys were carried out among a population living in the vicinity of a cement plant that emitted dust containing thallium until August, 1979. Air, soil, plants, and domestic animals in the area were contaminated by thallium and this led to an increased intake of thallium in the population, mainly due to the consumption of home-grown vegetables and fruit. In order to assess the degree of the individuals' exposure to thallium, thallium levels in 24-h urine samples (TlU) were determined. Three surveys were carried out from September to December, 1979 to assess the degree of thallium exposure of different parts of the general population. Subjects with relatively high exposure, as indicated by the results of the above mentioned population surveys, or those suffering from health disorders that might be related to an increased intake of thallium, were reexamined several times from 1979-1981. Special attention was also given to children attending a kindergarten situated about 0.5 km from the cement plant. As compared to an "unexposed" reference population (mean TlU: 0.3 microgram/l), the majority of the population living in the cement plant area had significantly elevated urinary thallium levels (range: less than 0.1-76.5 micrograms/l) indicating a substantially increased environmental exposure. A reduction of the intake of thallium was mainly achieved by the fact that the population, as advised by the authorities, largely avoided the consumption of home-grown, potentially contaminated foodstuffs. Reports on the teratogenicity of thallium in certain animal species caused great concern that thallium might have exerted teratogenic effects on the newborn of women exposed to thallium during pregnancy. Therefore, an investigation of children born between January, 1978 and August, 1979 (n = 297) was carried out. Although the number of congenital malformations was greater than expected, we conclude, considering carefully all data available, that there is likely no causal relationship between thallium and the occurrence of congenital malformations in the children investigated.

Abnormalities, Drug-Induced↗
PubMed1983

Turner syndrome: spontaneous growth in 150 cases and review of the literature.

The spontaneous growth of 150 patients with Turner syndrome from three German centers--90 with 45,X0 constitution, 60 with other chromosomal abnormalities--has been analyzed. The mean adult height was found to be (n = 14) 146.8 cm. It was observed that growth in these patients can be divided into four phases: (1) Intrauterine growth, which is retarded; (2) Height development, which is normal up to a bone-age of about 2 years; (3) Between a bone-age of 2 and 11 years when stunting of growth is most marked; (4) After a bone-age of 11 years--the time at which puberty should normally start--the growth phase is prolonged, but total height gain is only little below normal levels. No difference in height could be observed between cases with X0 karyotype and other chromosomal variants. The data are compared with those in the literature.

Adolescent↗
PubMed1982

Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.

We describe three unrelated patients with intrauterine growth retardation (IUGR) and nearly identical bone changes. In certain respects, they share similarities with the Seckel syndrome: small forehead, moderately prominent nose, micrognathia, pronounced intrauterine and postnatal growth retardation, microcephaly, and mental retardation. Differences from the Seckel syndrome include disproportionate shortness of forearms and legs in the first years of life, brachymesophalangy, brachymetacarpy I, V-shaped flare of at least the distal femoral metaphyses, triangular shape of the distal femoral epiphyses, a high and narrow pelvis, proximal femoral epiphysiolysis, and coxa vara. Hormone studies in two cases demonstrated no gross disturbances, especially no deficit of hGH and somatomedin. Two previously reported cases referred to as Seckel syndrome had nearly identical bone changes. The cause of this "new" type of IUGR remains unclear.

Child↗
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

Hydrometrocolpos, postaxial polydactyly, congenital heart disease, and anomalies of the gastrointestinal and genitourinary tracts: a rare autosomal recessive syndrome.

Nine cases with the hydrometrocolpospolydactyly syndrome (4 males, 5 females) from four unrelated families are presented. Leading symptoms of this rare disorder were hydrocolpos and postaxial polydactyly. Three affected girls had urinary hydrocolpos without vaginal septum or imperforate hymen, one had partial vaginal atresia, and one had no hydrometrocolpos. Glandular hypospadias and prominent scrotal raphe are added to the spectrum of malformations in this disorder in males. The literature is reviewed and problems in genetic counseling in this autosomal recessive disorder are discussed.

Abnormalities, Multiple↗
PubMed1981

The Weaver syndrome: a rare type of primordial overgrowth.

A boy with primordial overgrowth, macrocephaly, and anomalies of the face, nails, feet and skeleton is reported. Two cases in the literature- referred to as Weaver syndrome- exhibited nearly identical anomalies. All three cases were sporadic. Main symptoms of the Weaver syndrome are increased birth weight, early overgrowth, macrocephaly, accelerated osseous maturation, typical facies, hoarse, low pitched voice, hypertonia of muscles and mild developmental delay. Further symptoms are thin, deep-set nails, talipes equinovarus, widened distal femora, and some minor abnormalities. A second boy with primordial overgrowth and macrocephaly demonstrated some, but not all, the symptoms of this syndrome. Whether this boy showed a milder expression of the Weaver syndrome or benign familial macrocephaly is discussed.

Abnormalities, Multiple↗
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↗
PubMed1981

The teratogenicity of hydantoins and barbiturates in humans, with considerations on the etiology of malformations and cerebral disturbances in the children of epileptic parents.

A total of 194 children of epileptic mothers and 71 children of epileptic fathers were examined for mental retardation, neurologic disturbances, major malformations, and acrofacial dysmorphias typical for hydantoin-barbiturate embryopathy (HB-E). HB-E was observed in nearly 7% of the children of mothers on anticonvulsants during pregnancy. Barbiturates and/or primidone were observed to induce the same dysmorphic features as hydantoins. The teratogenic potential of hydantoins may be slightly increased in combination with barbiturates/primidone. Neither the 71 children of epileptic fathers nor the 46 children of epileptic mothers without anticonvulsants exhibited symptoms of HB-E. The frequency of major, unspecific malformations was increased in children of epileptic mothers as well as in children of epileptic fathers as compared with the general population. Cerebral disturbances without dysmorphias were increased in children of mothers with and without anticonvulsants, but this was rarely the case in children of epileptic fathers. Cerebral disturbances were observed more often in children of mothers with seizures during pregnancy than in children of mothers without seizures. Multifactorial genetic influences on major malformations and influences of maternal seizures on cerebral disturbances in the offspring are likely.

Abnormalities, Drug-Induced↗
PubMed1980

[Teratogenicity of anticonvulsant drugs (author's transl)].

Investigations were done on 111 children of epileptic mothers who used anticonvulsants in 93 pregnancies and none in 18 pregnancies. Hydantoinbarbiturate embryopathy was found in 7.1% after hydantoin monotherapy, in 17.6% after combination of hydantoin and barbiturates or primidone. No embryopathy was seen in children of untreated epileptic mothers. Children of untreated and treated epileptic mothers had an approximately equal frequency of marked single malformations and cerebral damage without dysmorphia. However, malformation and cerebral damage without dysmorphia was found significantly more frequently in children of mothers on anticonvulsant drugs with convulsions during pregnancy as compared to children of mothers without convulsions. Single manifestations and cerebral damage without dysmorphia are probably not caused by anticonvulsants but by convulsions during pregnancy.

Abnormalities, Drug-Induced↗
PubMed1980

Anomalies of the kidneys and genitourinary tract in alcoholic embryopathy.

in addition to the well known major signs of growth retardation, microcephaly, mental retardation and typical craniofacial dysmorphism, malformations of the urinary tract were found in 9 of 110 patients with alcohol embryopathy. Of the 110 patients 21 have been examined adequately. An extensive urologic investigation of children with alcohol embryopathy and symptoms suggesting kidney or genitourinary tract disease is essential for early diagnosis and correction of malformations. Awarness of alcohol embryopathy in a child referred for correction of urinary tract anomalies may help to establish the diagnosis and prevent it in further offspring.

Child, Preschool↗