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Biomedical subjects

B G ter Haar

Publications and source records attributed to B G ter Haar.

17 recordsLinked to original sources
PubMed1987

Renal magnesium wasting in two families with autosomal dominant inheritance.

Hypomagnesemia due to isolated renal magnesium loss was demonstrated in two unrelated families with autosomal dominant mode of inheritance. Magnesium infusions performed in two patients showed not only a reduced renal magnesium threshold but also a lowered renal tubular maximum for magnesium. All members of both families who presented with hypomagnesemia had also a lowered excretion of calcium in the urine, presumably as a consequence of increased reabsorption in Henle's loop.

Calcium↗
PubMed1986

Hereditary congenital facial paralysis.

Hereditary congenital facial paralysis is rare. This paper presents a pedigree of four generations of a family of about 100 members, nine of whom suffer from congenital facial paresis, three with impaired hearing, and three with both facial paresis and impaired hearing. Heredity is dominant with reduced penetrance.

Adult↗
PubMed1984

[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].

The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, polydactyly and congenital heart disease. Two of these 3 main symptoms should be present for the diagnosis. Associated anomalies are mainly found in the urogenital tract, the gastro-intestinal tract and the skeletal system. On the basis of 2 patients and the literature the clinical features and the genetic aspects of this syndrome are reviewed. The clinical variability and the severity of the syndrome are stressed. Evidence for an autosomal recessive inheritance is given. Because of the clinical variability it seems preferable to use the term complex rather than syndrome.

Abnormalities, Multiple↗
PubMed1983

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

3 siblings with symmetrical calcifications in the strio-pallido-dentate system are described. Parathyroid function was normal and there were no signs of central or peripheral myelinopathy. This is the 9th family reported with autosomal recessive idiopathic strio-pallido-dentate calcinosis and the first to be investigated by computerized tomography (CT). CT scans appeared to be superior to plain skull radiograms to assess the localization and the extent of the calcifications in vivo. The calcifications were the least extensive in the youngest and the most extensive in the eldest. It is suggested that the calcifying process is a progressive disorder. It seems to start in the dentate nuclei and pons, and subsequently extends to the basal ganglia and to the radiation of the corpus callosum.

Adult↗
PubMed1982

[Meckel's syndrome].

Explore the source record for details and available documents.

Abnormalities, Multiple↗
PubMed1982

Recessively inherited 'pure' spastic paraplegia: case study.

Two brothers with 'pure' spastic paraplegia are presented. Inheritance of their condition probably was autosomal recessive. Clinical onset was in the first decade. Peripheral nerve conduction, visual and brain stem auditory evoked potentials were normal. Somatosensory evoked potentials suggested involvement of the cuneate tract. The relevance of neurophysiological evaluation in familial spastic paraplegia is discussed.

Adolescent↗
PubMed1980

Epidemiology of alpha 1-antitrypsin deficiency in the Netherlands.

During a 3-year period, newborns in the eastern part of the Netherlands were investigated for alpha 1-antitrypsin deficiency. Electroimmunoassay was used for screening, followed by Pi typing in suspected cases. In all 95 033 newborns were screened, and a mean frequency of deficiency (phenotypes Pi Z, Pi SZ, and Pi S) of 8.00 in 10 000 was found. The distribution of deficient Pi types over the area was remarkably uneven, Pi type Z being more predominant north and Pi type S south of the Rhine. Cluster areas of alpha 1-antitrypsin deficiency, with frequencies of up to 59.6 in 10 000 live births, occurred mainly in small rural communities. In urbanized areas the frequency of deficiency was lower than the mean.

Alleles↗
PubMed1979

Karyotype instability with multiple 7/14 and 7/7 rearrangements.

Chromosomes were studied in a mentally retarded boy with microcephaly, growth retardation, facial erythema, café-au-lait spots, and IgA deficiency. In the lymphocytes there was a remarkable tendency to exchange parts of the chromosomes Nos. 7 and 14, the translocations almost exclusively taking place in bands 7p13, 7q32 and 14q11. Seven different types of rearrangements between Nos. 7 and 14, and some other chromosomal aberrations were found. No abnormalities could be detected in the bone marrow. The patient somewhat resembles those affected with ataxia-telangiectasia or with Bloom's syndrome, but on clinical and cytogenetic grounds these disorders could be excluded. 7/14 Translocations similar to those found in our patient's lymphocytes have been reported to occur very rarely in the lymphocyte cultures of individuals with apparently normal chromosome constitution. A relationship between these phenomena may exist.

Child↗
PubMed1979

Idiopathic arterial calcification of infancy.

A description is given of a 15-month-old girl with idiopathic arterial calcifications, detected during life time by X-ray. Radiological examination revealed calcifications in medium-sized arteries, histopathological examination showed distinct abnormalities of small vessels. The patient also had a metageria-like outward and retarded mental and motor development with myolysis. No cardiac failure was present.

Arteries↗