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Geleophysic dysplasia: 48 year clinical update with emphasis on cardiac care
Author(s) -
Legare Janet M.,
Modaff Peggy,
Strom Samuel P.,
Pauli Richard M.,
Bartlett Heather L.
Publication year - 2018
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.40377
Subject(s) - missense mutation , dysplasia , nonsense , nonsense mutation , medicine , disease , mutation , genetics , biology , gene
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.