M

 

Meier-Gorlin sendromu

8 fenotip

Kalıtsal  (fenotip 6 - AD)(ötekile- AR)

Gelişme geriliği (intrauterin başlar)

Cücelik

Mikrosefali

Uzun kirpikler

Strabismus

Kulaklar küçük

Burun kısa-belirgin

İşitme kusurları

Ağız küçük

Dudaklar kalın

Mikrognati (her iki çene)

Yarık damak

Mikrodonti

Solunum sistemi sorunları

İskelet sistemi anomalileri

Patella agenezi

Dış genital organların hipoplazisi

Zeka geriliği

 

  • Shalev SA, Hall JG. Another adult with Meier-Gorlin syndrome - insights into the natural history. Clinical Dysmorphology, 12: 167-169, 2003

  • Bicknell LS, Bongers EM, Leitch A, et al. Mutations in the pre-replication complex cause Meier-Gorlin syndrome. Nature Genetics, 43(4):356-359, 2011

  • Bicknell LS, Walker S, Klingseisen A, et al. Mutations in ORC1, encoding the largest subunit of the origin recognition complex, cause microcephalic primordial dwarfism resembling Meier-Gorlin syndrome. Nature Genetics, 43(4):350-355, 2011

  • de Munnik SA, Otten BJ, Schoots J, et al. Meier-Gorlin syndrome: growth and secondary sexual development of a microcephalic primordial dwarfism disorder. American Journal of Medical Genetics A, 158A(11):2733-2742, 2012