Curry-Jones sendromu

SMOH geni mutasyonu

Unilateral koronal sinostozis

Mikroftalmi
Koloboma

Göz kapak malformasyonları

Göz yakınında, yanaklarda, omuzlarda kıl kümeleri

Asimetrik yüz

Bacak uzunlukları farklı

Parmak anomalileri

Deride hipopigmante çizgiler

Beyin anomalileri

Psikomotor gelişmede gerilik

 

  • Thomas ERA, Wakeling EL, Goodman FR, et al. Mild case of Curry-Jones syndrome. Clinical Dysmorphology, 15: 115-117, 2006

  • Grange DK, Clericuzio CL, Bayliss SJ, et al. Two new patients with Curry-Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the Sonic hedgehog-patched-GLI pathway. American Journal of Medical Genetics A, 146A: 2589-2597, 2008

  • Twigg SRF, Hufnagel RB, Miller KA, et al. A recurrent mosaic mutation in SMO, encoding the Hedgehog signal transducer smoothened, is the major cause of Curry-Jones syndrome. American Journal of Human Genetics, 98: 1256-1265, 2016