V

 

Verloes-David-Pfeiffer tip mezomelik displazi

(mezomeli-sinostoz sendromu)

Kalıtsal - AD

Gelişme geriliği (cüce kısalığı)

Çekik gözler

Ptozis

Gagamsı burun

Mikroretrognati

Yumuşak damak hipoplazisi

Uvula agenezi

Konjenital kalp defektleri

Hidronefroz

Ekstremiteler kısa

Parmak eklemlerinde kaynaşma (sinoztoz)

Eklem hareketleri kısıtlanması

Vertebra anomalileri

 

  • Leroy JG, Claus L, Lee B, Mortier GR. Mesomelic dysplasia with specific autopodal synostoses: a third observation and further delineation of the multiple congenital anomaly syndrome. Pediatric Pathology & Molecular Medicine, 22: 23-35, 2003

  • Isidor B, Hamel A, Plasschaert F, et al. Mesomelic dysplasia with acral synostoses Verloes-David-Pfeiffer type: follow-up study documents progressive clinical course. American Journal of Medical Genetics, 149A: 2220-2225, 2009

  • Isidor B, Pichon O, Redon R, et al. Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13. American Journal of Human Genetics, 87: 95-100, 2010