Bilateral absence of the kidneys and ureters. Three cases reported in one family.
نویسندگان
چکیده
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 pattern which has been previously described. An additional male first cousin born to the mother's sister is sugesstive of sex-linked inheritance for this particular family, an inheritance pattern not previously described.
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 کاملTransgrediens et progrediens palmoplantar keratoderma of Sybert: Four cases in a single family
Palmoplantar keratoderma of Sybert (PPK of Sybert) or Sybert’s keratoderma was first documented by Virginia Sybert in 1988. Due to the high degree of similarity, it was previously considered to be Greither’s keratoderma, an established entity at that time. Currently, clinical and ultrastructural studies distinguish between the two disorders. Sybert’s keratoderma is an extremely rare type of ker...
متن کاملA Case of Bilateral Agenesis of the Femur
Bilateral femoral agenesis is a rare anomaly. To the best of our knowledge, only three cases of simple congenital anomaly and three cases associated with femoral facial syndrome have been reported. Here, we describe a simple form of bilateral femoral agenesis observed in one of the 2 dead fetuses delivered after termination of a 24-week twin pregnancy of a normal mother. Post-mortem x-ray ex...
متن کاملBilateral simple ectopic kidney in a cat
Bilateral simple ectopic kidney was diagnosed in an apparently healthy 3-year-old, female domestic short hair cat, incidentally based on radiology and ultrasonography examination. The cat was presented for routine examination without any complaint. In clinical evaluation, no significant abnormal clinical sign was seen except for the absence of both kidneys in their proper location in abdominal ...
متن کاملVariations of Palmaris Longus Tendon: a Cadaver Study in Kerman City
Introduction: Since palmaris longus tendon is the first choice for grafting, its anatomical variation is important. This study was designed to find the anatomical variations of this tendon in Iranian population by performing a study on cadaver. Method: In this study, 150 forearms belonged to 75 cadavers were studied. After exploring the proximal end of tendon, tendon width was measured at its p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- Journal of medical genetics
دوره 14 3 شماره
صفحات -
تاریخ انتشار 1977