C

 

Cole-Carpenter sendromu

Kalıtsal (tip 1 AD; tip 2 AR)

Gelişme geriliği

Makrosefali 

Fontaneller geniş

Geniş alın

Kafa kemikleri kalsifikasyonu yetersiz

Kafa kemiklerinde erozyonlar

Kraniyosinostozis bulguları

Ptosis

Mavi sklera

Mikrognati

Mikrodonti

Mine hipoplazisi

Güçlü osteoporoz

Vertebralarda yassılaşma ve kompresyon kırıkları

Kemik trabekülasyonları yetersiz

Uzun kemiklerde patolojik kırıklar

Pelvis kemiklerinde oluşum bozuklukları

Progressif hidrosefalus

 

  • Cole DEC, Carpenter TO. Bone fragility, Craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features: a newly recognized type of osteogenesis imperfecta. Journal of Pediatrics, 110: 76-80, 1987

  • Marwaha RK, Sarkar B, Katariya S, Jayshree K. Cole-Carpenter's syndrome. Indian Journal of Pediatrics, 60: 305-308, 1993

  • Rauch F, Fahiminiya S, Majewski J, et al. Cole-Carpenter syndrome is caused by a heterozygous missense mutation in P4HB. American Journal of Human Genetics, 96: 425-431, 2015

  • Zhang H, Yue H, Wang C, et al. Novel mutations in the SEC24D gene in Chinese families with autosomal recessive osteogenesis imperfecta. Osteoporosis International, 28: 1473-1480, 2017

  • Takeyari S, Kubota T, Miyata K, et al. Japanese patient with Cole-Carpenter syndrome with compound heterozygous variants of SEC24D. American Journal of Medical Genetics, 176A: 2882-2886, 2018