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Kapur-Toriello sendromu

Kalıtsal - AR

Boyun kısa

Garip yüz yapısı

Ptozis

Katarakt

Mikroftalmi

Kulak malformasyonları

İşitme sorunları

Belirgin burun ucu

Yarık dudak

Yarık damak

Oligodonti

Atrial septal defekt

GİS malformasyonları

Ürogenital sistem anomalileri

Parmak anomalileri

Epileptiform ataklar

Zeka geriliği

 

  • Kapur S, Toriello HV. Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial, eye, heart, and intestinal anomalies. American Journal of Medical Genetics, 41: 423-425, 1991

  • Yokoyama E, Martinez A, Gonzalez-del Angel A. Kapur-Toriello syndrome: further delineation. American Journal of Medical Genetics, 146A: 2791-2793, 2008

  • Robin NH, Rutledge KD, Ray PD, Grant JH. Further delineation of the Kapur-Toriello syndrome. American Journal of Medical Genetics, 152A: 1013-1015, 2010

  • Lefroy H, Goodacre T, Kini U. Kapur-Toriello syndrome: a further case report and expansion of the phenotype. Clinical Dysmorphology, 24: 170-172, 2015