Bilateral renal agenesis in 2 male sibs born to consanguineous parents.
نویسندگان
چکیده
Two boys with bilateral agenesis of kidneys and ureters were the product of a consanguineous marriage. This family and previous reports of familial bilateral renal agenesis support the supposition that a minor proportion of cases of BRA is caused by the homozygous state of an autosomal recessive gene.
منابع مشابه
A family study of renal agenesis.
SUMMARY A family study of bilateral renal agenesis was undertaken based on 103 patients with bilateral renal agenesis, ascertained through stillbirth and neonatal death certificates, and confirmed by necropsy reports; 28 were ascertained through paediatric pathologists. The families of 108 of these were traced and visited. The birth frequency in the year in which ascertainment was likely to be ...
متن کاملBilateral absence of the kidneys and ureters. Three cases reported in one family.
Three infant boys with bilateral absence of the kidneys and hypoplasia of the lungs are described. Two of the infants were brothers and the third was a first cousin. They were born to 2 sisters whose husbancs were unrelated to their wives and to each other. None of the parents had renal problems. The occurrence of this syndrome in 2 male sibs is suggestive of an autosomal recessive inheritance ...
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We describe here four sibs, born to consanguineous, healthy, asymptomatic parents. Three of these infants had a rapidly fatal course in the neonatal period; death was attributed to congestive heart failure with radiographic evidence of cardiomegaly in all of them. Necropsy was done in only one of them and showed the typical findings of tuberous sclerosis complex (TSC) in the central nervous sys...
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ورودعنوان ژورنال:
- Journal of medical genetics
دوره 15 4 شماره
صفحات -
تاریخ انتشار 1978