Pectus Excavatum: Genetics workup

Pediatric Surgery
Dr. Derek E, Neilson discusses the genetic evaluation for a pectus excavatum. Dr. Neilson elaborates on the evaluation techniques used which include primarily Marfan syndrome, the skeletal evaluation or physical findings, as well as the cardiac risks associated with Marfan syndrome. Dr. Neilson introduces another condition, Ehlers Danlos Syndrome, involving different types including connective tissue defects, vascular defects, and hyper mobility or flexibility. He discusses the Beighton score used in joint testing for Ehlers Danlos Syndrome, differentiation between Ethers Danlos Syndrome and extreme flexibility and indicators, fibromyalgia and hyper mobility.

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