Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care. Issue 11 (8th September 2018)

• Record Type: Journal Article
• Authors: Legare, Janet M.; Modaff, Peggy; Strom, Samuel P.; Pauli, Richard M.; Bartlett, Heather L.
• Is Part Of: American journal of medical genetics. Volume 176:Issue 11(2018)
• Page Start: 2237
• Page End: 2242
• Publication Date: 2018-09-08
• Subjects: geleophysic dysplasia -- ADAMTSL2 -- aortic stenosis -- TAVR -- aortic aneurysm -- GD1; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.40377
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Geleophysic dysplasia is a rare skeletal dysplasia often complicated by progressive cardiac disease. Information about long‐term outcomes is limited. A clinical update of the oldest surviving patient described with geleophysic dysplasia type 1 is provided. Special note is made in relation to the cardiac disease and interventions. Genetic testing of ADAMTSL2 revealed a previously reported missense mutation as well as a novel nonsense mutation, which can be added to the list of causative mutations in geleophysic dysplasia.