H

 

HMC sendromu 

Hypertelorism-Microtia-facial Clefting

Kalıtsal – AR

Mikrosefali

Hipertelorizm

Kulak delikleri küçük (microtia)

İşitme güçlüğü

Yarık yüz

Mikrostomi

Yarık dudak

Yarık damak

Konjenital kalp defektleri

Ektopik böbrek

Vertebra anomalileri

Parmak anomalileri

Psikomotor gerilik

  • Bixler D, Christian JC, Gorlin RJ. Hypertelorism, microtia, and facial clefting: a newly described inherited syndrome. American Journal of Diseases of Children, 118: 495-498, 1969

  • Schweckendiek W, Hillig U, Kruse E, et al. HMC syndrome in identical twins. Human Genetics, 33: 315-318, 1976

  • Baraitser M. The hypertelorism microtia clefting syndrome. Journal of Medical Genetics, 19: 387-388, 1982

  • Amiel J, Faivre L, Marianowskl R, et al. Hypertelorism-microtia-clefting syndrome (Bixler syndrome): report of two unrelated cases. Clinical Dysmorphology, 10: 15-18, 2001