Parental consanguinity and the Majewski syndrome.
نویسندگان
چکیده
منابع مشابه
Parental consanguinity and the Majewski syndrome.
We report a female infant with the Majewski syndrome, one of a group of conditions characterised by short ribs, polydactyly, dwarfism, and early neonatal death. This syndrome seems to be extremely rare, with only five well documented cases reported and, including this case, nine recorded in all. The Majewski syndrome is considered to be recessively inherited, and this report adds further suppor...
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This study was investigated whether parental consanguinity in males has an effect on or relationship with some infertile subgroups and some semen and hormone parameters. The charts of 2651 infertile males were evaluated retrospectively for parental consanguinity ratios, sperm counts, motility parameters and hormonal values from the records of 2651 infertile males. In 1260 eligible males the fir...
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The study compares frequencies of birth defects between immigrant groups and the rest of the Norwegian population in Norway and estimates the influence of consanguinity and socioeconomic factors on these frequencies. The authors studied all 1.56 million births in Norway from 1967 to 1993. Of these, 7,494 children had two Pakistani parents, 84,688 had one Norwegian and one immigrant parent, and ...
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In 1987 Young and Simpson reported a child with hypothyroidism, congenital heart disease, severe mental retardation, and striking facial dysmorphism. Two subsequent reports have described patients sharing some of the features of their case, although in both there were enough discordant features to make it uncertain that the same entity was being described. Here we present a female infant with v...
متن کاملOcular pathology of the Majewski syndrome.
The association of lethal neonatal dwarfism, narrow thorax, and polydactyly is well established in the older literature particularly from the syndromes described by Jeune and Ellis-Van Creveld.' There has been renewed interest in this subject and the classification of short rib polydactyly since Majewski et al. described the features of a lethal congenital syndrome characterised by short ribs a...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.2.141