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Pretzel syndrome: Difference between revisions

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Latest revision as of 14:49, 5 July 2019

Pretzel syndrome or PMSE is a rare disorder characterized by skeletal deformity, malformation of the brain (with accompanying seizures), electrolyte imbalances, and variable malformations of the heart and other organs [1]

Due to the peculiar positioning of the legs due to the muscular hypotonia in combination with connective tissue problems, children with mutations in the STRADA/LYK5 gene can twist themselves into a pretzel-like configuration.[2]


Treatment

[3] [4]

See also

Crigler Najjar syndrome [5]

Links

Polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome

Q17143464 at Wikidata  Interwiki via Wikidata


References

References: