Literature DB >> 23918321

Bardet-Biedl syndrome with urogenital sinus presenting with acute renal failure in a neonate.

Nandini K Bedi1, Dhruv Grover.   

Abstract

This is a case report of Bardet-Biedl syndrome with a urogenital sinus and an ectopic right ureter presenting with acute renal failure in the neonatal period in a female baby. Acute renal failure in these patients is commonly known to occur around 5-7 y of age and neonatal presentation is extremely rare.

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Year:  2013        PMID： 23918321     DOI： 10.1007/s12098-013-1147-z

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  7 in total

1.  Bardet-Biedl syndrome.

Authors:  Elizabeth Forsythe; Philip L Beales
Journal:  Eur J Hum Genet       Date:  2012-06-20       Impact factor: 4.246

2.  Bardet-Biedl syndrome: a rare case report from North India.

Authors:  Sumir Kumar; Bharat B Mahajan; Jyotisterna Mittal
Journal:  Indian J Dermatol Venereol Leprol       Date:  2012 Mar-Apr       Impact factor: 2.545

Review 3.  Phenotypic overlap of McKusick-Kaufman syndrome with bardet-biedl syndrome: a literature review.

Authors:  A M Slavotinek; L G Biesecker
Journal:  Am J Med Genet       Date:  2000-11-27

Review 4.  The retinal ciliopathies.

Authors:  N A Adams; Ahmed Awadein; Hassanain S Toma
Journal:  Ophthalmic Genet       Date:  2007-09       Impact factor: 1.803

5.  The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome.

Authors:  J S Green; P S Parfrey; J D Harnett; N R Farid; B C Cramer; G Johnson; O Heath; P J McManamon; E O'Leary; W Pryse-Phillips
Journal:  N Engl J Med       Date:  1989-10-12       Impact factor: 91.245

6.  Bardet-Biedl syndrome associated with vaginal atresia: a case report.

Authors:  Sema Uğuralp; Mehmet Demircan; Selma Cetin; Ahmet Siğirci
Journal:  Turk J Pediatr       Date:  2003 Jul-Sep       Impact factor: 0.552

Review 7.  The ciliopathies: an emerging class of human genetic disorders.

Authors:  Jose L Badano; Norimasa Mitsuma; Phil L Beales; Nicholas Katsanis
Journal:  Annu Rev Genomics Hum Genet       Date:  2006       Impact factor: 8.929
  7 in total
  1 in total

1.  Hydrometrocolpos and postaxial polydactyly in a girl newborn: A case report.

Authors:  Morgan L Day; Crystal C Avila; Dawn L Novak
Journal:  Clin Case Rep       Date:  2022-02-16
  1 in total

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