Fraser syndrome presenting as bilateral renal agenesis in three sibs
نویسندگان
چکیده
منابع مشابه
Bilateral renal agenesis in 2 male sibs born to consanguineous parents.
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.
متن کاملBilateral renal angiomyolipoma presenting as tuberous sclerosis syndrome.
To cite: Prakash G, Sankhwar S, Jhanwar A, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016214778 DESCRIPTION A 30-year-old woman presented with generalised abdominal pain of 3-month duration. She had a history of epilepsy and low intelligence since childhood. On examination, she was found to have multiple painless papules on her face (figure 1) and per...
متن کاملCongenital leukaemia presenting as bilateral renal masses.
Congenital leukemia is a rare and poorly defined disease. Many authors define it as leukemia occurring from birth to four week. Others recognize it as being synonymous with leukemia of the neonatal period and infancy. It is commonly acute myeloblastic but may be acute lymphoblastic or juvenile myeloid in type. It is associated with several trisomies, especially trisomy 21. Trisomy 13, trisomy 1...
متن کاملMarfan's syndrome presenting as bilateral spontaneous pneumothorax.
A case of bilateral spontaneous pneumothorax in a 14-year-old girl with previously undiagnosed Marfan's syndrome is described. The pulmonary abnormalities of Marfan's syndrome are not commonly encountered and bilateral pneumothorax is itself a rare event which, in most instances, has been reported following invasive procedures.
متن کاملBirth frequency of bilateral renal agenesis.
Birth frequency of bilateral renal agenesis SIR, In a family study of renal agenesis (J Med Genet 1979; 16: 176-88), we reported an estimate of the birth frequency in 1974 of bilateral renal agenesis, based on death and stillbirth certificates supplied by OPCS, which gave Potter's syndrome, or a not fully specified renal anomaly or agenesis, as an underlying or one of multiple causes of death. ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1982
ISSN: 1468-6244
DOI: 10.1136/jmg.19.5.360