"MURCS association"

MURCS Association with Partial Duplication of the Distal Long Chromosome 5 and Unilateral Ovarian Agenesis A combination of the congenital abnormalities, Müllerian duct aplasia, renal aplasia, and cervicothoracic somite dysplasia, is defined as the MURCS association. Various genetic defects have been described in the MURCS association so far, yet the unambiguous molecular basis of these disorders

is characterised by extragenital malformations. The so-called Müllerian hypoplasia, renal agenesis, cervicothoracic somite dysplasia (MURCS) association can be seen as the most severe phenotypic outcome. The MRKH syndrome affects at least 1 in 4000 to 5000 female new-borns. Although most of the cases are sporadic, familial clustering has also been described, indicating a genetic cause of the disease. However

associations reported in the literature that include abnormalities similar to the patient's, but none describe her presentation in its entirety. The MURCS association is characterised by (MU)llerian duct aplasia, (R)enal dysplasia and (C)ervical (S)omite anomalies and goes some way in explaining these condition. Patients with both MURCS and PCKD have not been described in current literature. Through

, tracheoesophageal fistula, and renal anomalies), VACTERL syndrome (vertebral anomalies, anorectal anomalies, tracheoesophageal fistula, renal and vascular anomalies, and cardiac and limb defects), Jarcho-Levin syndrome,Klippel-Feil syndrome,Alagille syndrome, Wildervank syndrome, Goldenhar syndrome,Marfan syndrome, and MURCS association (müllerian, renal, cervicothoracic, and somite abnormalities).The congenital

]. [Full Text]. 18. Carranza-Lira S, Forbin K, Martinez-Chéquer JC. Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. Int J Fertil Womens Med. 1999 Sep-Oct. 44 (5):250-5. [QxMD MEDLINE Link]. 19. Walker DK, Salibian RA, Salibian AD, Belen KM, Palmer SL. Overlooked diseases of the vagina: a directed anatomic-pathologic approach for imaging

on Adolescent Health Care. ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstet Gynecol. 2018 Jan. 131 (1):e35-e42. [QxMD MEDLINE Link]. [Full Text]. 18. Carranza-Lira S, Forbin K, Martinez-Chéquer JC. Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. Int J Fertil Womens Med. 1999 Sep-Oct. 44 (5):250-5. [QxMD MEDLINE

]. [Full Text]. 18. Carranza-Lira S, Forbin K, Martinez-Chéquer JC. Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. Int J Fertil Womens Med. 1999 Sep-Oct. 44 (5):250-5. [QxMD MEDLINE Link]. 19. Walker DK, Salibian RA, Salibian AD, Belen KM, Palmer SL. Overlooked diseases of the vagina: a directed anatomic-pathologic approach for imaging

on Adolescent Health Care. ACOG Committee Opinion No. 728: Müllerian Agenesis: Diagnosis, Management, And Treatment. Obstet Gynecol. 2018 Jan. 131 (1):e35-e42. [QxMD MEDLINE Link]. [Full Text]. 18. Carranza-Lira S, Forbin K, Martinez-Chéquer JC. Rokitansky syndrome and MURCS association--clinical features and basis for diagnosis. Int J Fertil Womens Med. 1999 Sep-Oct. 44 (5):250-5. [QxMD MEDLINE

syndrome and Klippel-Feil syndrome has been reported. This syndrome is characterized by congenital fusion of the cervical spine, a short neck, a low posterior hairline, and limited range of motion in the cervical spine. [58] The MURCS association (ie, M üllerian duct aplasia, U nilateral R enal aplasia, C ervicothoracic S omite dysplasia) is another variant. Infrequently, auditory deficits, cardiac

, tracheoesophageal fistula, and renal anomalies), VACTERL syndrome (vertebral anomalies, anorectal anomalies, tracheoesophageal fistula, renal and vascular anomalies, and cardiac and limb defects), Jarcho-Levin syndrome,Klippel-Feil syndrome,Alagille syndrome, Wildervank syndrome, Goldenhar syndrome,Marfan syndrome, and MURCS association (müllerian, renal, cervicothoracic, and somite abnormalities).The congenital

syndrome and Klippel-Feil syndrome has been reported. This syndrome is characterized by congenital fusion of the cervical spine, a short neck, a low posterior hairline, and limited range of motion in the cervical spine. [58] The MURCS association (ie, M üllerian duct aplasia, U nilateral R enal aplasia, C ervicothoracic S omite dysplasia) is another variant. Infrequently, auditory deficits, cardiac

syndrome and Klippel-Feil syndrome has been reported. This syndrome is characterized by congenital fusion of the cervical spine, a short neck, a low posterior hairline, and limited range of motion in the cervical spine. [58] The MURCS association (ie, M üllerian duct aplasia, U nilateral R enal aplasia, C ervicothoracic S omite dysplasia) is another variant. Infrequently, auditory deficits, cardiac

syndrome and Klippel-Feil syndrome has been reported. This syndrome is characterized by congenital fusion of the cervical spine, a short neck, a low posterior hairline, and limited range of motion in the cervical spine. [58] The MURCS association (ie, M üllerian duct aplasia, U nilateral R enal aplasia, C ervicothoracic S omite dysplasia) is another variant. Infrequently, auditory deficits, cardiac

(renal fused ectopia) associated with ovarian, uterine and vaginal abnormalities. This is the first exploratory study on the craniocervical and the entire spine in a group of patients with MURCS association.

MURCS association: case report and review. We report on a 25 year old woman with aplasia of the Müllerian duct, unilateral renal agenesis, and anomalies of the cervicothoracic somites (MURCS association). Growth retardation and facial asymmetry were also present. A review of published reports allows MURCS association to be distinguished from related associations, sequences, and syndromes . Moreover, sporadic occurrence, the broad spectrum of associated anomalies, and the involvement of different organ systems closely related in early embryogenesis are arguments for considering MURCS association as the consequence of a developmental field defect.