Hydrometrocolpos and acute renal failure: A rare neonatal presentation of Bardet-Biedl syndrome

Journal of Pediatric Urology

Volumn 4, Issue 4, 2008, Pages 313-316

  Cherian, Mathew Punnachalil ^a   Al Sanna'a, Nouriya A ^a   Ayyat, Faris M ^a  

^a DHAHRAN HEALTH CENTER   (Saudi Arabia)

Author keywords

Acute renal failure; Bardet Biedl syndrome; Hydrometrocolpos; Postaxial polydactyly

Indexed keywords

ACUTE KIDNEY FAILURE; ADOLESCENT; ARTICLE; ASPIRATION; BARDET BIEDL SYNDROME; BRACHYDACTYLY; CASE REPORT; CLINICAL FEATURE; CONSANGUINITY; DISEASE ASSOCIATION; FAMILY HISTORY; FEMALE; HIP DYSPLASIA; HUMAN; HYDROMETROCOLPOS; HYDRONEPHROSIS; INTRAVENOUS PYELOGRAPHY; KIDNEY DISEASE; KIDNEY FAILURE; LAPAROTOMY; ORTHOPEDIC EQUIPMENT; POLYDACTYLY; PRIORITY JOURNAL; SALPINGOOOPHORECTOMY; SAUDI ARABIA; TUBOOVARIAN ABSCESS; URETER DILATATION; URINARY TRACT OBSTRUCTION; UROGENITAL TRACT RADIOGRAPHY; VAGINA ATRESIA; VAGINA RECONSTRUCTION;

BARDET-BIEDL SYNDROME; FEMALE; HUMANS; HYDROCOLPOS; HYDRONEPHROSIS; INFANT, NEWBORN; KIDNEY FAILURE, ACUTE; UROGRAPHY; VAGINA;

EID: 47249142479     PISSN: 14775131     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpurol.2007.10.009     Document Type: Article

References (13)

1. McKusick V., Bauer B.L., Koop C.E., and Scott R.B. Hydrometrocolpos as a simply inherited malformation. JAMA 189 (1964) 813-816
2. Kaufman R.L., Hartmann H.F., and McAlister W.H. Family studies of congenital heart disease II: a syndrome of hydrometrocolpos, postaxial polydactyly and congenital heart disease. J Pediatr 8 (1972) 85-87
3. David A., Bitoun P., Lacombe D., Lambert J.C., Nivelon A., Vigneron J., et al. Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes. J Med Genet 36 (1999) 599-603
4. Stone D.L., Slavotinek A.M., Bouffard G.G., Banerjee-Basu S., Baxevanis A.D., Barr M., et al. Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome. Nat Genet 25 (2000) 79-82
5. Slavotinek A.M., Searby C., Al-Gazali L., Hennekam R.C., Schrander-Stumpel C., Orcana-Losa M., et al. Mutation analysis of the MKKS gene in McKusick-Kaufman syndrome and selected Bardet-Biedl syndrome patients. Hum Genet 110 (2002) 561-567
6. Schachat A.P., and Maumenee I.H. Bardet-Biedl syndrome and related disorders. Arch Ophthalmol 100 (1982) 285-288
7. Green J.S., Parfrey P.S., Harnett J.D., Farid N.R., Cramer B.C., Johnson G., et al. The cardinal manifestations of Bardet-Biedl syndrome, a form of Laurence-Moon-Biedl syndrome. N Engl J Med 321 (1989) 1002-1009
8. Stoler J.M., Herrin J.T., and Holmes L.B. Genital abnormalities in females with Bardet-Biedl syndrome. Am J Med Genet 55 (1995) 276-278
9. Mehrotra N., Taub S., and Covert R.F. Hydrometrocolpos as a neonatal manifestation of Bardet-Biedl syndrome. Am J Med Genet 69 (1997) 220
10. Oguzkurt P., Tanyel F.C., and Hicsonmez A. Vaginal atresia and Bardet-Biedl syndrome association: a component or a distinct entity?. J Pediatr Surg 34 (1999) 504-506
11. Aygun C., Ozkaya O., Ayyyldyz S., Gungor O., Mutlu B., and Kucukoduk S. An unusual cause of acute renal failure in a newborn: hydrometrocolpos. Pediatr Nephrol 21 (2006) 572-573
12. Slavotinek A.M., and Biesecker L.G. Phenotypic overlap of McKusick-Kaufman syndrome with Bardet-Biedl syndrome: a literature review. Am J Med Genet 95 (2000) 208-215
13. Ucar B., Yacut A., Kural N., Buyukasik F., and Vardareli E. Renal involvement in the Laurence-Moon-Bardet-Biedl syndrome: report of five cases. Pediatr Nephrol 11 (1997) 31-35