Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
JM Legare, P Modaff, SP Strom… - American Journal of …, 2018 - Wiley Online Library
JM Legare, P Modaff, SP Strom, RM Pauli, HL Bartlett
American Journal of Medical Genetics Part A, 2018•Wiley Online LibraryGeleophysic 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.
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.
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.
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