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Biomedical subjects

F Majewski

Publications and source records attributed to F Majewski.

105 records · Page 6Linked to original sources
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↗
PubMedDate not supplied

FISH studies in 45 patients with Rubinstein-Taybi syndrome: deletions associated with polysplenia, hypoplastic left heart and death in infancy.

Rubinstein-Taybi syndrome (RTS) is a dominant Mendelian disorder characterised by mental retardation, a typical facies, broad thumbs and short stature. Previous reports indicated that 4-25% of RTS patients have a submicroscopic 16p13.3 deletion of the CBP gene. Using FISH and cosmid probes RT100, RT191 and RT203 we studied 45 RTS patients from Germany, the Czech Republic, Austria and Turkey and found four deletions (8.9%, pooled data including other studies: 11%). All deletions were interstitial; three spanned the CBP gene (RT100-RT203) and one was smaller (RT100 only). Previous studies reported no phenotype-genotype correlation between RTS patients with or without a deletion. Our findings suggest a more severe phenotype. The mean age at presentation was 0.96 years in patients with a deletion as against 11.12 years in those without. Patients A and B with a deletion died in infancy which is rare in RTS and was not observed among the other patients. Patients A and D had accessory spleens, Patient A with hypoplastic left heart, abnormal pulmonary lobulation and renal agenesis. This is the second report of hypoplastic left heart and the first report of polysplenia with RTS. The signs suggest a developmental field defect (disturbance of laterality) either as a newly recognised pattern of RTS, or alternatively a novel contiguous gene syndrome.

Adolescent↗
PubMedDate not supplied

[Retinitis pigmentosa, terminal renal insufficiency and Caroli syndrome: new associations with Opitz trigonocephaly syndrome].

We report on a new patient with Opitz trigonocephaly syndrome. In addition to the findings typical of this mental retardation syndrome, the present patient has retinitis pigmentosa, Caroli's syndrome and renal failure, which is undergoing hemodialysis. This association is never observed before in patients with Opitz trigonocephaly syndrome. This case demonstrate, that with increased survival of patients with mental retardation syndromes, the phenotypes possible are modified.

Abnormalities, Multiple↗