Treacher Collins syndrome (TCS): clinical features
Evidence-based neurology checklist on treacher collins syndrome (tcs): clinical features: Facial features Downward slanting palpebral fissures Hypoplastic facial bones Coloboma (notching) of the lower eyelids Auditory features Dental features Neurological features Congenital heart defects Other…
Facial features
- Downward slanting palpebral fissures
- Hypoplastic facial bones
- Coloboma (notching) of the lower eyelids
Auditory features
Dental features
Neurological features
Congenital heart defects
Other features
Differential diagnoses
Synonyms
References
- Trainor PA, Dixon J, Dixon MJ. Treacher Collins syndrome: etiology, pathogenesis and prevention. Eur J Hum Genet 2009; 17:275-283.
- Vincent M, Geneviève D, Ostertag A, et al. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. Genet Med 2016; 18:49-56.
- Sakai D, Trainor PA. Treacher Collins syndrome: unmasking the role of Tcof1/treacle. Int J Biochem Cell Biol 2009; 41:1229-1232.
- Jones NC, Lynn ML, Gaudenz K, et al. Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function. Nat Med 2008; 14:125-133.
- Giabicani E, Lemale J, Dainese L, et al. Chronic intestinal pseudo-obstruction in a child with Treacher Collins syndrome. Arch Pediatr 2017; 24:1000-1004.
