M

 

MEND sendromu

Kalıtsal - XLR

Boy kısa

Kulaklar aşağıda

Katarakt

Kısa-yüksek burun sırtı

Yüz orta bölüm hipoplazisi

Mikroretrognati

Çukur damak

Kalp anomalileri

Aorta stenozu

İnmemiş testisler

Skolyoz

Kifoz

Parmak anomalileri

Deride pigmentasyon bozuklukları

İktiyozis

Hipotoni

Psikomotor gelişme geriliği

Epileptiform ataklar

Hidrosefali

Dandy-Walker malformasyonu
Corpus callosum hipoplazisi/agenezi

Zeka geriliği

Agresif ve hiperaktif davranışlar

 

  • Furtado LV, Bayrak-Toydemir P, Hulinsky B, et al. A novel X-linked multiple congenital anomaly syndrome associated with an EBP mutation. American Journal of Medical Genetics, 152A: 2838-2844, 2010

  • Arnold, A. W., Bruckner-Tuderman, L., Has, C., Happle, R. Conradi-Hunermann-Happle syndrome in males vs MEND syndrome (male EBP disorder with neurological defects). British Journal of Dermatology, 166: 1309-1313, 2012

  • Barboza-Cerda MC, Campos-Acevedo LD, Rangel R, et al. A novel phenotype characterized by digital abnormalities, intellectual disability, and short stature in a Mexican family maps to Xp11.4-p11.21. American Journal of Medical Genetics, 161A: 237-243, 2013

  • Barboza-Cerda MC, Wong L-J, Martinez-de-Villareal LE, et al. A novel EBP c.224T-A mutation supports the existence of a male-specific disorder independent of CDPX2. Am. J. Med. Genet. 164A: 1642-1647, 2014

  • Hartill VL, Tysoe C, Manning N, et al. An unusual phenotype of X-linked developmental delay and extreme behavioral difficulties associated with a mutation in the EBP gene. Am. J. Med. Genet. 164A: 907-914, 2014