Typical and Atypical Associated Findings in a Group of 346 Patients with Mayer-Rokitansky-Kuester-Hauser Syndrome

Folch, 2000, Mullerian agenesis: etiology, diagnosis, and management, Obstet Gynecol Surv, 55, 644, 10.1097/00006254-200010000-00023 Rall, 2011, A combination of transcriptome and methylation analyses reveals embryologically-relevant candidate genes in MRKH patients, Orphanet J Rare Dis, 6, 32, 10.1186/1750-1172-6-32 Wottgen, 2008, Higher incidence of linked malformations in siblings of Mayer-Rokitansky-Kuster-Hauser-syndrome patients, Humanit Rep, 23, 1226, 10.1093/humrep/den059 Oppelt, 2007, Female genital malformations and their associated abnormalities, Fertil Steril, 87, 335, 10.1016/j.fertnstert.2006.07.1501 Oppelt, 2006, Clinical aspects of Mayer-Rokitansky-Kuester-Hauser syndrome: recommendations for clinical diagnosis and staging, Humanit Rep, 21, 792, 10.1093/humrep/dei381 Acien, 2010, Hereditary renal adysplasia, pulmonary hypoplasia and Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome: a case report, Orphanet J Rare Dis, 5, 6, 10.1186/1750-1172-5-6 Komura, 2007, A female infant who had both complete VACTERL association and MURCS association: report of a case, Surg Today, 37, 878, 10.1007/s00595-007-3478-8 Griesinger, 2005, Mayer-Rokitansky-Kuster-Hauser syndrome associated with thrombocytopenia-absent radius syndrome, Fertil Steril, 83, 452, 10.1016/j.fertnstert.2004.06.077 Morcel, 2007, Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome, Orphanet J Rare Dis, 2, 13, 10.1186/1750-1172-2-13 Sultan, 2009, Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings, Gynecol Endocrinol, 25, 8, 10.1080/09513590802288291 Biason-Lauber, 2007, WNT4 deficiency: a clinical phenotype distinct from the classic Mayer-Rokitansky-Kuster-Hauser syndrome. A case report, Hum Reprod, 22, 224, 10.1093/humrep/del360 Biason-Lauber, 2004, A WNT4 mutation associated with Mullerian-duct regression and virilization in a 46,XX woman, N Engl J Med, 351, 792, 10.1056/NEJMoa040533 Philibert, 2008, Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study, J Clin Endocrinol Metab, 93, 895, 10.1210/jc.2007-2023 Nik-Zainal, 2011, High incidence of recurrent copy number variants in patients with isolated and syndromic Mullerian aplasia, J Med Genet, 48, 197, 10.1136/jmg.2010.082412 Brucker, 2008, Neovagina creation in vaginal agenesis: development of a new laparoscopic Vecchietti-based procedure and optimized instruments in a prospective comparative interventional study in 101 patients, Fertil Steril, 90, 1940, 10.1016/j.fertnstert.2007.08.070 Griffin, 1976, Congenital absence of the vagina. The Mayer-Rokitansky-Kuster-Hauser syndrome, Ann Intern Med, 85, 224, 10.7326/0003-4819-85-2-224 Oppelt, 2012, Malformations in a cohort of 284 women with Mayer-Rokitansky-Kuster-Hauser syndrome (MRKH), Reprod Biol Endocrinol, 10, 57, 10.1186/1477-7827-10-57 Dabkowska-Huc, 2013, MURCS association with partial duplication of the distal long chromosome 5 and unilateral ovarian agenesis, Case Rep Genet, 2013, 105052 Behera, 2005, Mullerian agenesis and thrombocytopenia absent radius syndrome: a case report and review of syndromes associated with Mullerian agenesis, Obstet Gynecol Surv, 60, 453, 10.1097/01.ogx.0000165265.01778.55 Greenhalgh, 2002, Thrombocytopenia-absent radius syndrome: a clinical genetic study, J Med Genet, 39, 876, 10.1136/jmg.39.12.876 Steinkampf, 2003, Monozygotic twins discordant for vaginal agenesis and bilateral tibial longitudinal deficiency, Fertil Steril, 80, 643, 10.1016/S0015-0282(03)00758-1 Toriello, 2011, Thrombocytopenia-absent radius syndrome, Semin Thromb Hemost, 37, 707, 10.1055/s-0031-1291381 Gremeau, 2009, Congenital diaphragmatic hernia and genital anomalies: Emanuel syndrome, P Prenat Diagn, 29, 816, 10.1002/pd.2289 Sammour, 2014, Congenital genitourinary abnormalities in children with Williams-Beuren syndrome, J Pediatr Urol, 10.1016/j.jpurol.2014.01.013 Kumar, 2007, Management of an unusual case of atypical Mayer-Rokitansky-Kuster-Hauser syndrome, with unilateral gonadal agenesis, solitary ectopic pelvic kidney, and pelviureteric junction obstruction, Int Urogynecol J Pelvic Floor Dysfunct, 18, 823, 10.1007/s00192-006-0238-z Gorgojo, 2002, Gonadal agenesis 46,XX associated with the atypical form of Rokitansky syndrome, Fertil Steril, 77, 185, 10.1016/S0015-0282(01)02943-0 Plevraki, 2004, Bilateral ovarian agenesis and the presence of the testis-specific protein 1-Y-linked gene: two new features of Mayer-Rokitansky-Kuster-Hauser syndrome, Fertil Steril, 81, 689, 10.1016/j.fertnstert.2003.07.029 Kebaili, 2013, Gonadal dysgenesis and the Mayer-Rokitansky-Kuster-Hauser syndrome in a girl with a 46, XX karyotype: A case report and review of literature, Indian J Endocrinol Metab, 17, 505, 10.4103/2230-8210.111663 Dasgupta, 2012, Mayer-Rokitansky-Kuster-Hauser type-B anomaly with MURCS association and gonadal dysgenesis, J Obstet Gynaecol India, 62, 83, 10.1007/s13224-013-0384-4 Erol, 2004, Report of a girl with Klippel-feil syndrome and Poland anomaly, Genet Couns, 15, 469 Balusamy, 2009, MURCS and VACTERL association in a 27 year old female, J Obstet Gynaecol, 29, 762, 10.3109/01443610903191293 Linke, 2005, Right esophageal lung in a preterm child with VACTERL association and Mayer-Rokitansky-Kuster-Hauser syndrome, Pediatr Surg Int, 21, 285, 10.1007/s00383-004-1304-6 Kim, 2001, Murine models of VACTERL syndrome: Role of sonic hedgehog signaling pathway, J Pediatr Surg, 36, 381, 10.1053/jpsu.2001.20722 Roberts, 1995, Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut, Development, 121, 3163, 10.1242/dev.121.10.3163 Solomon, 2011, VACTERL/VATER association, Orphanet J Rare Dis, 6, 56, 10.1186/1750-1172-6-56 Levitt, 2009, Rectovestibular fistula: rarely recognized associated gynecologic anomalies, J Pediatr Surg, 44, 1261, 10.1016/j.jpedsurg.2009.02.046 Mahajan, 2009, Mayer-Rokitansky-Kuster-Hauser syndrome with H-type anovestibular fistula, J Pediatr Surg, 44, E1, 10.1016/j.jpedsurg.2009.04.015 Wang, 2010, Mayer-Rokitansky-Kuester-Hauser (MRKH) syndrome with rectovestibular fistula and imperforate anus, Eur J Obstet Gynecol Reprod Biol, 153, 77, 10.1016/j.ejogrb.2010.07.003 Richardson, 2004, Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly, J Med Genet, 41, 60, 10.1136/jmg.2003.012005 Richardson, 2006, A nonsense mutation in the first transmembrane domain of connexin 43 underlies autosomal recessive oculodentodigital syndrome, J Med Genet, 43, e37, 10.1136/jmg.2005.037655 Zrnova, 2011, Analysis of chromosomal aberrations in patients with mental retardation using the array-CGH technique: a single Czech centre experience, Folia Biol, 57, 206 Ananthapur, 2010, A robertsonian translocation rob (14;15) (q10:q10) in a patient with recurrent abortions: a case report, J Reprod Infertil, 11, 197 Oiglane-Shlik, 2006, Prevalence of Angelman syndrome and Prader-Willi syndrome in Estonian children: sister syndromes not equally represented, Am J Med Genet A, 140, 1936, 10.1002/ajmg.a.31423 Ogur, 2006, Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers, Mol Hum Reprod, 12, 209, 10.1093/molehr/gah253 Chinnappan, 2001, Acquired Robertsonian translocations in two leukemia patients, Cancer Genet Cytogenet, 131, 104, 10.1016/S0165-4608(01)00478-2 Dana, 2012, Association of pericentric inversion of chromosome 9 and infertility in romanian population, Maedica, 7, 25 Betz, 2005, Acquired inv(9): what is its significance?, Cancer Genet Cytogenet, 160, 76, 10.1016/j.cancergencyto.2004.12.002 Jeong, 2010, De novo pericentric inversion of chromosome 9 in congenital anomaly, Yonsei Med, 51, 775, 10.3349/ymj.2010.51.5.775 Kurotaki, 2002, Haploinsufficiency of NSD1 causes Sotos syndrome, Nat Genet, 30, 365, 10.1038/ng863 Malan, 2010, Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome, Am J Hum Genet, 87, 189, 10.1016/j.ajhg.2010.07.001 Gibson, 2010, Mutations in EZH2 cause Weaver syndrome, Am J Hum Genet, 90, 110, 10.1016/j.ajhg.2011.11.018 Knijnenburg, 2012, A 600 kb triplication in the cat eye syndrome critical region causes anorectal, renal and preauricular anomalies in a three-generation family, Eur J Hum Genet, 20, 986, 10.1038/ejhg.2012.43 Ko, 2010, Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome, J Korean Med Sci, 25, 1798, 10.3346/jkms.2010.25.12.1798 Schinzel, 1981, The “cat eye syndrome”: dicentric small marker chromosome probably derived from a no.22 (tetrasomy 22pter to q11) associated with a characteristic phenotype. Report of 11 patients and delineation of the clinical picture, Hum Genet, 57, 148, 10.1007/BF00282012 Cordova-Fletes, 2012, A de novo sSMC(22) characterized by high-resolution arrays in a girl with cat-eye syndrome without coloboma, Mol Syndromol, 3, 131, 10.1159/000341632 Chen, 2013, Prenatal diagnosis and molecular cytogenetic characterization of mosaicism for a small supernumerary marker chromosome derived from chromosome 22 associated with cat eye syndrome, Gene, 527, 384, 10.1016/j.gene.2013.05.061 Yagi, 2003, Role of TBX1 in human del22q11.2 syndrome, Lancet, 362, 1366, 10.1016/S0140-6736(03)14632-6 Morcel, 2011, Utero-vaginal aplasia (Mayer-Rokitansky-Kuster-Hauser syndrome) associated with deletions in known DiGeorge or DiGeorge-like loci, Orphanet J Rare Dis, 6, 9, 10.1186/1750-1172-6-9 Cheroki, 2006, Report of a del22q11 in a patient with Mayer-Rokitansky-Kuster-Hauser (MRKH) anomaly and exclusion of WNT-4, RAR-gamma, and RXR-alpha as major genes determining MRKH anomaly in a study of 25 affected women, Am J Med Genet A, 140, 1339, 10.1002/ajmg.a.31254 Ledig, 2011, Recurrent aberrations identified by array: CGH in patients with Mayer-Rokitansky-Kuster-Hauser syndrome, Fertil Steril, 95, 1589, 10.1016/j.fertnstert.2010.07.1062