Sat. Jun 17, 2017 2:30 PM - 5:10 PM Room No.3 (10F Conference Room 1001-1002)

Chair:Nobuhiko Okamoto(Department of Medical Genetics, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Japan), Seiji Mizuno(Department of Pediatrics, Aichi Human Service Center, Aichi, Japan)

[Aim]
A growing number of patients with genetic syndromes will have access to a confirmed molecular diagnosis. Increasing application of diagnostic methods including microarray and whole exome sequencing on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. Dysmorphology is still important in the clinical practice. Dysmorphology is a specialty in genetic medicine that involves the study of abnormal human forms and the description of complex syndromes. Proper diagnosis results in appropriate selection of genetic tests. Identifying the underlying cause of genetic syndromes often helps in choosing the appropriate management, suggests the long-term prognosis and clarifies the risk of the same condition in relatives. In the first part of the seminar, we will present basic information on dysmorphology. Individuals with genetic syndromes may exhibit complex pattern of behavioral abnormalities. Behavioral assessments, along with physical examination, is important to define their behavioral phenotypes. We will show some patients with inborn errors of metabolism with dysmorphic features. The number of new syndromes is increasing as the result of advanced new technologies. We will show key findings of newly defined neurogenetic syndromes. They may remain undiagnosed in daily practice. In the second part of the seminar, we will proceed "Diagnostic Challenges". Through practical case studies, we will discuss the process of diagnosis of genetic syndromes.