Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney - An unusual triad of anomalies

Journal of Pediatric Endocrinology and Metabolism

Volumn 23, Issue 10, 2010, Pages 1087-1091

  Ganie, Mohd Ashraf ^a   Laway, Bashir Ahmed ^a   Ahmed, Sanjeed ^a   Alai, Mohd Sultan ^a   Lone, G N ^a  

^a SHER I KASHMIR INSTITUTE OF MEDICAL SCIENCES   (India)

Author keywords

Atrial septal defect with partial; Mayer Rokintansky Kuster Hauser syndrome; MURCS

Indexed keywords

ESTROGEN; MEDROXYPROGESTERONE; PROGESTERONE;

ADOLESCENT; ARTICLE; CASE REPORT; ECHOGRAPHY; FEMALE; FEMALE GENITAL TRACT MALFORMATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; KIDNEY DISEASE; LUNG VEIN DRAINAGE ANOMALY; MAYER ROKINTANSKY KUSTER HAUSER SYNDROME; MENARCHE; MENSTRUATION; PARTIAL ANOMALOUS PULMONARY VENOUS CONNECTION; TREATMENT DURATION; UTERINE CERVIX; UTERINE TUBE; UTERUS; VAGINA; VAGINA RECONSTRUCTION;

46, XX DISORDERS OF SEX DEVELOPMENT; ABNORMALITIES, MULTIPLE; ADOLESCENT; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; KIDNEY; PULMONARY VEINS; SYNDROME; UTERUS; VAGINA;

EID: 79951541622     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: 10.1515/jpem.2010.172     Document Type: Article

References (11)

1. Folch M, Pigem I, Konje JC. Mullerian agenesis: etiology, diagnosis, and management. Obstet Gynecol Surv. 2000; 55:644-649.
2. Willemsen WN. Renal-skeletal-ear- and facialanomalies in combination with the Mayer- Rokitansky-Kuster (MRK) syndrome. Eur J Obstet Gynecol Reprod Biol. 1982; 14(2):121-130. (Pubitemid 12003013)
3. Fakih MH, Williamson HO, Seymour EQ, Pai S. Concurrence of the Holt-Oram syndrome and the Rokitansky-Kuster-Hauser syndrome. A case report. J Reprod Med. 1987; 32(7):549-550. (Pubitemid 17114427)
4. Ulrich U, Schrickel J, Dorn C, Richter O, Lewalter T, Luderitz B, Rhiem K. Mayer-von Rokitansky-Kuster- Hauser syndrome in association with a hitherto undescribed variant of the Holt-Oram syndrome with an aorto-pulmonary window. Hum Reprod. 2004 19(5):1201-1203. (Pubitemid 38618505)
5. X. Kula S, Saygili A, Tunaoglu FS, Olgunturk R. Mayer-Rokitansky-Kuster- Hauser syndrome associated with pulmonary stenosis. Acta Paediatr. 2004; 93(4):570-572. (Pubitemid 38469713)
6. Y. Biecker A, Willinek WA, Grohe C. Mayer- Rokitansky-Kuster-Hauser syndrome with aortic isthmus stenosis. Dtsch Med Wochenschr. 2006 17; 131(11):540-542.
7. Goodman FR. Congenital abnormalities of body patterning: embryology revisited. Lancet. 2003; 362:651-662. (Pubitemid 37013309)
8. Strubbe EH, Cremers CW, Willemsen WN, Rolland R, Thijn CJ. The Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome without and with associated features: two separate entities? Clin Dysmorphol. 1994; 3:192-199. (Pubitemid 24260173)
9. Ganie MA, Nabi G, Tandon N, Ghulati M, Dhanwal DK.Mayer-Rokitansky- Kuster-Hauser Syndrome With Presacral Kidney: An uncommon association. Urology, 59(2) 296:2002.
10. Letterie GS, Vauss N. Mullerian tract abnormalities and associated auditory defects. J Reprod Med. 1991; 36:765-768.
11. Duncan PA, Shapiro LR, Stangel JJ, Klein RM, Addonizio JC. The MURCS association: Mullerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia. J Pediatr. 1979; 95:399-402. (Pubitemid 9220160)