摘要:

Recurrent dislocation of the patella is considered to be a manifestation of generalized joint laxity. An autosomal dominant mode of inheritance was previously suggested in a few instances; however, male‐to‐male transmission has not yet been reported. We report a recurrent dislocation of the patella occurring in five generations of one family with male‐to‐male transmission and without generalized joint

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04257.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The acrocephalosyndactylies are a group of conditions with a wide variability of expression. We report a patient with features of the Pfeiffer syndrome (acrocephalosyndactyly type V), initially believed to be a new mutation in her family. Further examination of her mother demonstrated abnormalities of her right thumb which we believe may represent mild expression of the Pfeiffer syndrome. This observation illustrates the variability of phenotypic expression in the Pfeiffer syndrome and underscores the importance of careful investigation of parents and other family members when evaluating individuals with this condition.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04258.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

The Cu‐Zn superoxide dismutase (SOD1) activity was estimated in red blood cells in children with regular trisomy 21. We report patients displaying typical Down syndrome clinical features and with SOD1 activity in the normal rang

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04259.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Two sisters with a complex clinical pattern, including microcephaly, microgenia, defects of skin pigmentation, anal stenosis/atresia, and combined immunodeficiency together with spontaneous chromosomal instability and cellular hypersensitivity to X‐rays and bleomycin are described. Complementation studies on heterokaryons proved that the underlying genetic defect is non‐allelic with that of patients with ataxia telangiectasia (complementation groups AB‐E) and the Nijmegen breakage syndrome, but identical with the case described by Conley et al. (

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04260.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Two siblings, born to healthy non‐consanguineous parents, were found to be affected with congenital progressive severe myopathy. Muscle biopsy revealed fiber type disproportion with no other histological abnormalities, thus confirming the diagnosis of congenital fiber type disproportion and suggesting an autosomal recessive mode of inheritance. This, to our knowledge, is the first reported family in which a strict histological diagnosis of congenital fiber type disproportion has been made and an autosomal recessive mode of inheritance show

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04261.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

First trimester prenatal diagnosis was offered to a couple at risk for having a child with I‐cell disease (mucolipidosis II). The prenatal evaluation was based for the first time on examination of N‐acetylglucosamine 1‐phosphotransferase activity, deficiency of which is the primary biochemical defect in both I‐cell disease and pseudo‐Hurler polydystrophy (mucolipidosis III). Heterozygote levels of this enzyme activity were determined in chorionic villi obtained at 9 weeks of gestation, as well as in cultured trophoblasts derived from this specimen, and led to the diagnosis of an unaffected fetus. This procedure has advantages over that based on detection of abnormal intracellular‐extracellular distribution of lysosomal enzyme activities, which is expressed only in homozygotes and fully expressed only in cell cultur

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04262.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

We present two families in whom the affected members have angiomatous lesions which may be found in both the skin and the central nervous system. Within these families the inheritance is autosomal dominant.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04263.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

A case of a prenatal diagnosis at the second trimester is presented showing a normal karyotype in 12 metaphases from chorionic villi. In all cultured amniotic cells, however, and also in all fetal fibroblasts analyzed after abortion a structural anomaly (46,XY;del 4(pter→p15.2) was detected. Prenatal diagnosis was performed because of intrauterine growth retardation, cleft lip and esophagus atresia by ultrasound. The fetal stigmata are compatible with the Wolf Hirschhorn syndrome. We conclude that amniocentesis may be indicated notwithstanding a normal CV‐diagnosis in those rare pregnancies with a characteristically abnormal ultraso

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04264.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

Forty‐six British families, containing at least one child affected with cystic fibrosis, were typed for restriction fragment length polymorphisms (RFLPs) by the probes pmet H, pmet D, pJ3.11 and 7c22. Thirty‐five (76%) were fully informative for prenatal diagnosis and carrier detection, while in the remainder prenatal exclusion of an affected fetus could be carried out in half the pregnancies. The frequencies of individual alleles did not differ between cystic fibrosis and normal chromosomes. However, the previously noted excess of one haplotype on chromosomes carrying the cystic fibrosis gene was confir

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04265.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY

摘要:

In this report we describe the occurrence of severe mesomelic shortening of the forearms due to hypoplasia of the ulnae with severe radial bowing. In contrast to the mesomelic dysplasias, i.e. Langer type of mesomelic dwarfism, this apparently autosomal dominantly inherited skeletal anomaly occurred as an isolated anomaly without concomitant involvement of shanks or other parts of the skeleton, and did not influence final adult height.

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1988.tb04266.x

出版商:Blackwell Publishing Ltd    

年代:1988

数据来源: WILEY