View Only- Ehlers-Danlos Syndrome Hypermobile Type in Children: Differential Diagnosis and Recommendations for Management-Ehlers-Danlos Syndrome Hypermobile Type in Children: Differential Diagnosis and Recommendations for Management

Ehlers-Danlos Syndrome Hypermobile Type in Children: Differential Diagnosis and Recommendations for Management

Video Transcription

Video Summary

In this video summary, the speaker introduces the ACMG Genomics Case Conference, which rotates between laboratories that perform genome-scale testing and clinicians involved in the cases. The speaker mentions that the session is on Ehlers-Danlos Syndrome hypermobile type in children, providing information on differential diagnosis and recommendations for management. The session is supported by an unrestricted educational grant from QIAGEN Bioinformatics and the Ingenuity Clinical Decision Support Platform. The speaker and Dr. Brad Kinkle are introduced as being affiliated with The Ohio State University College of Medicine and Advocate Children's Hospital, respectively. They discuss various objectives for the session including the clinical evaluation of joint hypermobility, the comparison of diagnostic criteria for hypermobile EDS, and recognizing clinical scenarios that suggest alternative diagnoses. They mention the importance of geneticists being knowledgeable about patient management and providing a unified approach to diagnosis. The speaker presents three case studies, each highlighting different aspects of EDS, such as diagnosis, differential diagnosis, and management. They also address questions from the audience and provide insight into the role of geneticists in understanding and managing EDS. The session concludes with references and information on accessing the recording of the seminar.

Asset Subtitle

Hosted by ACMG Professional Practice and Guidelines Committee

Keywords

ACMG Genomics Case Conference

genome-scale testing

Ehlers-Danlos Syndrome hypermobile type

differential diagnosis

recommendations for management

QIAGEN Bioinformatics

The Ohio State University College of Medicine

Advocate Children's Hospital

geneticists

case studies