View Only- Featuring the 2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand-2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand

2020 Digital Edition of Cardinal Signs of Common and Uncommon Disorders- OnDemand

Video Transcription

Video Summary

Thank you for joining the ACMG Genomics Case Conference. The session featured presentations on PLOD-3-related disorders, CHOP syndrome, and Primrose syndrome. The speakers included Dr. John Burnett, Dr. Paul Hillman, Dr. Kosuke Izumi, Dr. Donita Velasco, and Dr. Ian Krantz. PLOD-3-related disorders are characterized by dysmorphic facial features, visual defects, musculoskeletal abnormalities, ectodermal abnormalities, developmental delay, and sensory or hearing loss. CHOP syndrome is characterized by facial dysmorphism, developmental delay, congenital heart disease, pulmonary involvement, growth abnormalities, skeletal abnormalities, hearing loss, and distinctive craniofacial features. Primrose syndrome is a rare intellectual disability syndrome caused by missense variants in the ZBTB20 gene. The syndrome is characterized by developmental delay, macrocephaly, hearing loss, corpus callosum abnormalities, external ear abnormalities, bony abnormalities, hypothyroidism, autism, and distinctive craniofacial features. The speakers discussed the clinical features, genetic basis, diagnostic challenges, and management recommendations for these syndromes. The session included case studies and illustrations to further illustrate the presentations. Thank you for watching.

Keywords

ACMG Genomics Case Conference

PLOD-3-related disorders

CHOP syndrome

Primrose syndrome

developmental delay

distinctive craniofacial features

ZBTB20 gene

macrocephaly

autism