J

 

Juberg-Hayward sendromu (orocraniodigital sendrom)

Kalıtsal - AR

Gelişme geriliği

Mikrosefali

Hipertelorizm

Ptosis

Yarık dudak

Yarık damak

Başparmak anomalileri

Topuk kemiği anomalileri

Radius başı deformasyonu

Atnalı böbrek

Zeka geriliği

 

  • Silengo M, Tornetta L. Juberg-Hayward syndrome: report of a case with cleft palate, distally placed thumbs and vertebral anomalies. Clinical Dysmorphology, 9: 127-129, 2000

  • Reardon W, Hall CM, Gorman W. An atypical case suggesting the possibility of overlap between Malpuech and Juberg-Hayward syndromes. Clinical Dysmorphology, 10: 123-128, 2001

  • Hedera P, Innis JW. Juberg-Hayward syndrome: report of a new patient with severe phenotype and novel clinical features. American Journal of Medical Genetics A, 122A: 257-260, 2003