Hypokalaemia and dysmorphia, is there a link?
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ABSTRACT:
SUBMITTER: Burtey S
PROVIDER: S-EPMC4421201 | biostudies-literature | 2009 Jun
REPOSITORIES: biostudies-literature
Publications
Hypokalaemia and dysmorphia, is there a link?
Burtey Stéphane S Sternberg Damien D Nguyen Karine K Philip Nicole N Berland Yvon Y Dussol Bertrand B
NDT plus 20090204 3
A 15-year-old boy with quadriplegia and facial dysmorphia was referred to the emergency room. This was his first episode of tetraplegia. One maternal uncle had exhibited the same manifestation 20 years before. Blood test revealed severe hypokalaemia and mild hypocalcaemia. The clinical diagnosis revealed an Andersen-Tawil syndrome. Molecular tools allowed us to make the diagnosis of familial hypokalaemic periodic paralysis type 1 associated with a de novo 22q11.2 microdeletion syndrome. Our case ...[more]
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