摘要:

An attempt was made to trace all cases of tapeto‐retinal degeneration in Norway. Four counties (fylker) were selected for personal examination of probands with a diagnosis of unspecified tapeto‐retinal degeneration, retinitis pigmentosa, or Usher syndrome.The examinations led to the rejection of the diagnosis of tapeto‐retinal degeneration in three persons, and in another four persons a diagnosis of choroidal dystrophy was made. The specific type diagnosis was adjusted in 26 additional persons.The results indicate that in Norway the diagnosis of retinitis pigmentosa may be made too frequently. Patients with Usher syndrome, choroideremia or cone‐rod dystrophy are most often given the diagnosis of retinitis pigmentosa. Retinitis pigmentosa of pericentral type is in general not specified, and the diagnosis of tapeto‐retinal degeneration without specified type diagnosis and retinitis pigmentosa are sometimes int

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00767.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

In four Norwegian counties (fylker) 89 probands with tapeto‐retinal degeneration have been traced and examined by the author. 407 of their nearest relatives (mostly first degree relatives) were also examined. A total of 63 of the relatives were found to be affected, of whom 42 had not been registered previously.After completion of the examinations the mode of inheritance differed from that previously estimated in 50% of the families.Of the 48 families with “classical” retinitis pigmentosa, 8% showed autosomal dominant, 50% autosomal recessive and 2% X‐linked recessive inheritance. The remaining 40% were families with solitary cases without consanguinity between the parents of the affected person.Of five families with retinitis pigmentosa of pericentral type, four demonstrated an autosomal dominant pattern of inhe

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00768.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

Minimal pigment, a new type of oculocutaneous albinism (OCA), is described. At birth, affected individuals had no skin or eye pigment, and white hair and blue irides, but minimal amounts of pigment developed in the iris during the first decade of life. They had no measurable hairbulb tyrosinase activity. A characteristic and unusual pattern of parental activity was found in each of three families studied, with one parent having normal and the other parent having abnormally low tyrosinase activity. The melanocyte ultrastructure was normal and variations in premelanosomal pigmentation correlated with tyrosinase activity. This clinical and biochemical pattern has not been seen in any of the previously described types of OCA. The biochemical defect in minimal pigment OCA is unknown.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00769.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A group of 30 patients ranging from 4 to 56 years of age with the peripheral form of neurofibromatosis were evaluated for the presence of iris (Lisch) nodules. These nodules were observed in 73% of our cases and their presence was directly related to the severity of the skin manifestations of the disease. It is concluded that Lisch nodules are pathognomonic for neurofibromatosis and thus, their presence should be looked for in all suspected cases.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00770.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The inheritance of A‐V conduction time in Polynesians has been examined, using ECGs taken from the population of the Tokelau Islands. As has been demonstrated in other racial groups, A‐V conduction time was influenced by sex, age, and heart rate.Complex segregation analysis provides evidence for a significant polygenic influence on A‐V conduction, but no evidence for a major gene. Familial correlations and commingling analysis are in agreement with this conclusion. The heritability of A‐V conduction time was 0.46.The hypothesis of M0ller&Heiberg (1980a) that a major gene could be influencing A‐V conduction, is not supported by t

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00771.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

The codominant expression of three HLA haplotypes was found in a healthy 21‐year‐old Black male, whose prometaphase karyotype was normal by light microscopy. He was the sibling of an antenatally diagnosed female fetus with a partial duplication of 6p. The duplication arose from a complex presumably balanced maternal chromosome rearrangement: 46, XX, dir ins(14;6)(14pter→14p11::6p22→6p21.1::14p11→14qter;6pter→6p22::6p21.1→6qter). Chromosomalin situhybridization using a tritium‐labeled genomic clone corresponding to a class I HLA gene revealed two sites of hybridization: at 6p21.3, the band to which this probe has been assigned in normal individuals (Morton et al. 1984a) and a second site at 6p11. We postulate that a recombinational event during meiotic pairing in the mother led to the reintroduction into the normal chromosome 6 homolog of a small segment of the original insertion in chromosme 14 which contained the HLA‐A an

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00772.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

We report a family with what appears to be a unique X‐linked recessive disorder of isolated hyperostosis of the calvarium. Although irregularity of the calvarium and exophytic prominences of the frontoparietal bones were apparent in infancy, premature cranial suture closure did not occur and there was no evidence of increased intracranial pressure despite a Luckenshadel appearance of the skull. Other membranous bones and the tubular bones were not involved. Calvarial bone biopsy from one patient showed vacuolated histiocytes suggesting a storage disease; however, neurologic deterioration, hepatosplenomegaly, and dysostosis multiplex did not occur. The affected family members had normal stature, normal occipitofrontal circumference, and no other medical problems. The biochemical basis of this disorder is not known. Although storage of abnormal material is possible, the long‐term prognosis seems favora

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00773.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A 29‐year‐old female with diabetes insipidus, deafness, a visual disorder and an abnormal glucose tolerance test, who gave birth to a healthy baby is described. Her male sibling is probably also similarly affected. These patients may represent previously unreported variants of the “DIDMOAD” (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy and Deafness) syndrome. This is the first reported case of childbirth in an affected

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00774.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

An Arab family is reported in which the proband and two affected sibs had bilateral rhizomelia of the humerus and other skeletal, craniofacial and cardiac abnormalities. Since all three affected sibs died during early childhood, this may be a lethal condition. We believe this constellation of findings which has not been previously described represents a new syndrome, most probably transmitted as an autosomal recessive disorder.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00775.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY

摘要:

A three‐month‐old female infant with multiple malformations was noted on routine cytogenetic evaluation to have dicentric/ring mosaicism of chromosome 13. Additional cytogenic investigations indicated that the dicentric could be further defined as an isopseudodicentric. Unlike the double chromosome break in the more common ring 13 cases, the mechanism for isopseudo‐dicentric/ring generation is attributed to chromosome and chromatid breaks with subsequent bridging, breaking and fusion. The phenotypic features are those of a combined duplication‐deficiency of chromo

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1986.tb00776.x

出版商:Blackwell Publishing Ltd    

年代:1986

数据来源: WILEY