C

 

Cerebro-costo-mandibular sendrom

Kalıtsal - AD

Mikrosefali

Pterygium colli

Otitis media

İşitme sorunları

Yanaklar küçük (hipoplazi)

Filtrum uzun

Pierre Robin sequence bulguları

Kısa damak (hipoplazi)

Trismus

Diş anomalileri

Kalp septum defektleri

Renal anomaliler (atnalı böbrek, ektopik böbrek)

Kosta eksiklikleri (toraks çok dar)

Skolyoz

Kalça çıkığı

Solunum ve beslenme güçlükleri

Psikomotor gerilik

 

  • Elliott MA, Studen-Pavlovich DA, Ranalli DN. Prevalence of selected pediatric conditions in children with Pierre Robin sequence. Pediatric Dentistry, 17(2):106-111, 1995

  • van den Ende JJ, Schrander-Stumpel C, Rupprecht E, et al. The cerebro-costo-mandibular syndrome: seven patients and review of the literature. Clinical Dysmorphology, 7(2):87-95, 1998

  • Kirk EPE, Arbuckle S, Ramm PL, Ades LC. Severe micrognathia, cleft palate, absent olfactory tract, and abnormal rib development: cerebro-costo-mandibular syndrome or a new syndrome? American Journal of Medical Genetics, 84: 120-124, 1999

  • James PA, Aftimos S. Familial cerebro-costo-mandibular syndrome: a case with unusual prenatal findings and review. Clinical Dysmorphology, 12: 63-68, 2003

  • Wilcox BK, Tatum SA. Cerebro-costo-mandibular syndrome presenting as Pierre Robin sequence. American Journal of Otolaryngology, 25(4):258-262, 2004

  • Tooley M, Lynch D, Bernier F, et al. Cerebro-costo-mandibular syndrome: Clinical, radiological, and genetic findings. American Journal of Medical Genetics A, 170A(5):1115-1126, 2016

  • Bütow K-W, Zwahlen RA, Morkel JA, Naidoo S. Pierre Robin sequence: Subdivision, data, theories, and treatment – Part 2: Syndromic and nonsyndromic Pierre Robin sequence. Annals of Maxillofacial Surgery, 6(1): 35–37, 2016

  • Tooley M, Lynch D, Bernier F, et al. Cerebro-costo-mandibular syndrome: clinical, radiological, and genetic findings. American Journal of Medical Genetics A, 170A: 1115-1126, 2016