Dysmorphology and Craniofacial Syndromes
Presented by Ann W. Kummer
Nonfinancial: Ann W. Kummer has no competing nonfinancial interests or relationships with regard to the content presented in this course.
This course will include a discussion of the different types of dysmorphology and why speech-language pathologists should be astute craniofacial and oral dysmorphologists. The presenter will review certain craniofacial syndromes and describe some of their characteristic anomalies. Finally, the major features of 22q11.2 deletion (velocardiofacial) syndrome will be described, and the presenter will discuss why it’s important for SLPs to recognize this syndrome.
Meet your instructor
Ann W. Kummer
Dr. Ann W. Kummer retired as senior director of the Division of Speech-Language Pathology at Cincinnati Children’s Hospital in September 2017. Under her direction, the speech-language pathology program at Cincinnati Children’s became the largest pediatric program in the nation and one of the most respected. Dr. Kummer remains…
Chapters & learning objectives
1. Dysmorphology and Basic Principles of Observation
In this chapter, the following terms will be defined and illustrated: dysmorphology, malformation, deformation, syndrome, association, and sequence. The presenter will define the basic principles of observation and illustrate the importance of observing dysmorphology in an evaluation.
2. Examples of Craniofacial Syndromes
The presenter will review various examples of craniofacial syndromes and describe the characteristic anomalies.
3. 22q11.2 Deletion Syndrome (22q)
In this chapter, the presenter will describe the major features of 22q11.2 deletion (velocardiofacial) syndrome and discuss why it is important for SLPs to recognize this syndrome.
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