摘要:

We report on 12 early prenatal diagnoses of “Potter syndrome” and other severe fetal kidney diseases by ultrasonic observations of persistent oligohydramnios and absence of kidney function; seven pregnancies were terminated. These cases are discussed together with others observed in a total of 23 families. Special attention is given to the difficulty of classifying the various kidney diseases pathoanatomically, and also of determining the recurrence risk in the affected families. For genetic counselling, the possibility of early prenatal diagnosis is a practical solution to this problem. Routine ultrasound supervision of pregnancies can already detect a first, sporadic case of the various kidney disea

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01422.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

Nine individuals with Down's syndrome and 12 normal children were studied. Platelets from Down's syndrome (DS) were smaller than normal and had reduced numbers and volumes of electron dense bodies. Whole cell and dense body calcium levels were lower than normal, while platelet surface net negative charge and anionic sites were found to be elevated in DS platelets. The findings suggest a calcium‐related membrane abnormality as one of the defects in DS platelet

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01423.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

The analysis of colony‐forming ability after ultraviolet light exposure is described with amniotic fluid cells from a pregnancy at risk for Cockayne syndrome. The amniotic fluid cells were considerably more sensitive to ultraviolet light than normal amniotic fluid cells and skin fibroblasts from normal donors. It took about 5 weeks from amniocentesis to identify the affected fetus by this colony assay. The diagnosis was confirmed in fibroblast cultures from both skin and lung of the aborted fetu

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01424.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

摘要:

This report concerns the concurrence in a male infant of Meckel syndrome (Dysencephalia splanchnocystica) and M‐anisosplenia. a rare variant of the Ivemark asplenia syndrome. Because of one previous report of this combination, we assume a possible etiologic relationshi

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01425.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01426.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY

ISSN:0009-9163    

DOI:10.1111/j.1399-0004.1982.tb01427.x

出版商:Blackwell Publishing Ltd    

年代:1982

数据来源: WILEY