M

 

Mayer-Rokitansky-Kuster-Hauser sendromu

Spontan/Kalıtsal - AD

Gelişme geriliği

Boyun kısa (Klippel-Feil anomalisi)

Yüz asimetrisi

Dış kulak yolu malformasyonu

İşitme sorunları

Mikrognati

Yarık dudak

Yarık damak

Kosta anomalileri

Skapula anomalisi (Sprengel deformasyonu)

Azospermi

Uterus ve vagina anomalileri/agenezi

Unilateral renal agenezis

Ektopik böbrek

Servikotorasik vertebral defektler

Üst ekstremitelerde defektler

Serebellum kistleri

 

  • Lin HJ, Cornford ME, Hu B, et al. Occipital encephalocele and MURCS association: case report and review of central nervous system anomalies in MURCS patients. American Journal of Medical Genetics, 61: 59-62, 1996

  • Meschede D, Kliesch S, Horst J, Nieschlag E. Azoospermia and segmentation abnormalities of the cervicothoracic spine ('MURCS in the male'). Clinical Dysmorphology, 7: 59-60, 1998

  • Pittock ST, Babovic-Vuksanovic D, Lteif A. Mayer-Rokitansky-Kuster-Hauser anomaly and its associated malformations. American Journal of Medical Genetics, 135A: 314-316, 2005

  • Tan TY, Whitela C., Savarirayan R. A patient with Mullerian abnormalities, renal dysplasia, cervical spine fusion, cataracts and intellectual disability: MURCS-plus Clinical Dysmorphology,16: 271-273, 2007

  • Al Kaissi A, Ben Chehida F, Ben Ghachem M, et al. Occipitoatlantoaxial junction malformation and early onset senile ankylosing vertebral hyperostosis in a girl with MURCS association. American Journal of Medical Genetics, 149A: 470-474, 2009