1.
Discuss the difference between penetrance, expressivity, and pleiotropy?
2.
What are the differences between a malformation, syndrome, deformation, disruption, sequence and association?
3.
What are some other nongenetic causes of craniofacial anomalies?
4.
What is craniosynostosis? Describe the different types.
5.
Make a table of some of the most common syndromes discussed in otolaryngology and the associated genetic markers.
6.
Discuss the differences between Alpert, Crouzon and Pfeiffer syndromes.
7.
What is CHARGE association? What other anomalies are associated with it?
8.
What are the common features of children with Downs Syndrome? What are some of the health care guidelines for these patients that are relevant for an otolaryngologist?
9.
How does goldenhar syndrome differ from hemifacial microsomia?
10.
Discuss the grading system for hemifacial microsomia. What are some treatment options for patients with hemifacial microsomia?
11.
What is Melkersson-Rosenthal syndrome?
12.
What are the ENT manifestations of fetal alcohol syndrome?
13.
What are the different types of Waardenburg syndrome?
14.
What syndromes are associated with colobomas? Discuss their various locations.
15.
What is velocardiofacial syndrome? How does it relate to DiGeorge syndrome?
16.
Briefly discuss the management of patients with craniosynostosis.
Reference(s):
Fearon, J. A. (2014). Evidence-based medicine: Craniosynostosis. Plastic and Reconstructive Surgery, 133(5), 1261–1275.
17.
Discuss the role of mandibular distraction osteogenesis in patients with micrognathia.
Reference(s):
Lam, D. J., Tabangin, M. E., Shikary, T. A., Uribe-Rivera, A., Meinzen-Derr, J. K., de Alarcon, A., … Gordon, C. B. (2014). Outcomes of mandibular distraction osteogenesis in the treatment of severe micrognathia. JAMA Otolaryngology– Head & Neck Surgery, 140(4), 338–345.