S

Serebrofasiyotorasik displazi

Cerebrofaciothoracic dysplasia

Kalıtsal - AR

Makrosefali

Brakisefali

Boyun kısa

Alın dar

Yüz basık

Yüksek kaş çıkıntıları

Gür ve kesintisiz kaşlar

Kirpikler uzun

Hipertelorizm

Kısa burun sırtı

Burun kanatları hipoplazisi

Düşük ve arkaya dönük kulaklar

Mikrognati

Yarık dudak

Çukur damak

Yarık damak

Gingival hiperplazi

Süt dişlerinde sürme aksamaları

Mikrodonti (süt dişlerinde)

Kosta anomalileri

Zeka geriliği

 

  • Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM Jr. Cerebrofaciothoracic syndrome. American Journal of Medical Genetics, 61: 152-153, 1996

  • Kanaka-Gantenbein C, Chrousos G, Fryssira H, Mastorakos G. Growth hormone deficiency in a case of cerebrofaciothoracic syndrome in one of two affected siblings. (Letter) American Journal of Medical Genetics, 129A: 330 only, 2004

  • Cilliers, D, Alanay Y, Boduroğlu K, et al. Cerebro-facio-thoracic dysplasia: expanding the phenotype. Clinical Dysmorphology, 16: 121-125, 2007

  • Xin B, Puffenberger EG, Turben S, et al. Homozygous frameshift mutation in TMCO1 causes a syndrome with craniofacial dysmorphism, skeletal anomalies, and mental retardation. Proceedings of the National Academy of Sciences, 107: 258-263, 2010

  • Çağlayan AO, Per H, Akgümüş G, et al. Whole-exome sequencing identified a patient with TMCO1 defect syndrome and expands the phenotic (sic) spectrum. (Letter) Clinical Genetics, 84: 394-395, 2013