Aase-Smith Syndrome




At a glance



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Autosomal dominant inherited syndrome with hydrocephalus, cleft palate, joint contractures, and abnormal dermal ridge patterning of palms and fingertips.




Synonyms



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Aase-Smith Syndrome I; Distal Arthrogryposis Type IIB Syndrome; Sheldon-Hall Syndrome.




History



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First described in 1968, in a father and his two children (a stillborn boy and a girl who died at 6 weeks of age), by the American pediatricians Jon Morton Aase and David Weyhe Smith.




Incidence



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Unknown, but extremely rare.




Genetic inheritance



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Autosomal dominant.


Nov 19, 2019 | Posted by in ANESTHESIA | Comments Off on Aase-Smith Syndrome

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