Literature DB >> 881712

Bilateral absence of the kidneys and ureters. Three cases reported in one family.

H M Pashayan, T Dowd, A V Nigro.   

Abstract

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.

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Year:  1977        PMID: 881712      PMCID: PMC1013558          DOI: 10.1136/jmg.14.3.205

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  20 in total

1.  BILATERAL ABSENCE OF URETERS AND KIDNEYS: A REPORT OF 50 CASES.

Authors:  E L POTTER
Journal:  Obstet Gynecol       Date:  1965-01       Impact factor: 7.661

2.  Bilateral absence of the kidneys and related congenital anomalies.

Authors:  W M DAVIDSON; G I ROSS
Journal:  J Pathol Bacteriol       Date:  1954-10

3.  Renal agenesis and severe urinary tract dysplasia: a review of 50 cases, with particular reference to the associated anomalies.

Authors:  A D BAIN; J S SCOTT
Journal:  Br Med J       Date:  1960-03-19

4.  Malformation of ears as sign of malformation of genito-urinary tract.

Authors:  D HILSON
Journal:  Br Med J       Date:  1957-10-05

5.  Bilateral renal agenesis in siblings.

Authors:  N W ARENDS
Journal:  J Am Osteopath Assoc       Date:  1957-07

6.  Bilateral agenesis of the kidneys in two consecutive infants.

Authors:  C BARON
Journal:  Am J Obstet Gynecol       Date:  1954-03       Impact factor: 8.661

7.  Congenital absence of both kidneys; a report of four cases.

Authors:  P E SYLVESTER; D R HUGHES
Journal:  Br Med J       Date:  1954-01-09

8.  Renal aplasia in sisters.

Authors:  E C H SCHMIDT; A A HARTLEY; R BOWER
Journal:  AMA Arch Pathol       Date:  1952-10

9.  Potter syndrome. Nonrenal features induced by oligoamnios.

Authors:  A G Fantel; T H Shepard
Journal:  Am J Dis Child       Date:  1975-11

10.  Bilateral renal agenesis in two female siblings.

Authors:  J M Rizza; S E Downing
Journal:  Am J Dis Child       Date:  1971-01
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  8 in total

1.  A family study of renal agenesis.

Authors:  C O Carter; K Evans; G Pescia
Journal:  J Med Genet       Date:  1979-06       Impact factor: 6.318

2.  Concordant monozygotic twins with bilateral renal agenesis.

Authors:  J R Yates; G Mortimer; J M Connor; J E Duke
Journal:  J Med Genet       Date:  1984-02       Impact factor: 6.318

3.  Bilateral renal agenesis in 2 male sibs born to consanguineous parents.

Authors:  A Schinzel; C Homberger; T Sigrist
Journal:  J Med Genet       Date:  1978-08       Impact factor: 6.318

4.  Genetic bases of renal agenesis in the ACI rat: mapping of Renag1 to chromosome 14.

Authors:  James D Shull; Cynthia M Lachel; Tracy E Strecker; Thomas J Spady; Martin Tochacek; Karen L Pennington; Clare R Murrin; Jane L Meza; Beverly S Schaffer; Lisa A Flood; Karen A Gould
Journal:  Mamm Genome       Date:  2006-07-14       Impact factor: 2.957

5.  Potter sequence and consanguinity--a case report.

Authors:  B R Fischler; U B Berg
Journal:  Pediatr Nephrol       Date:  1994-02       Impact factor: 3.714

6.  Cystic kidneys. Genetics, pathologic anatomy, clinical picture, and prenatal diagnosis.

Authors:  K Zerres; M C Völpel; H Weiss
Journal:  Hum Genet       Date:  1984       Impact factor: 4.132

Review 7.  Genetics of cystic kidney diseases. Criteria for classification and genetic counselling.

Authors:  K Zerres
Journal:  Pediatr Nephrol       Date:  1987-07       Impact factor: 3.714

8.  A pedigree study of perinatally lethal renal disease.

Authors:  A Bankier; M de Campo; R Newell; J G Rogers; D M Danks
Journal:  J Med Genet       Date:  1985-04       Impact factor: 6.318

  8 in total

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