sialidosis type II

sialidosis type II

An AR condition characterized by coarse facies and dysostosis multiplex, divided into a congenital form with ascites, hydrops fetalis, gargoyle-like facies, visceromegaly, mental retardation, myoclonus, tonic-clonic seizures, cherry-red spots, hearing loss, deficiency of alpha-N-acetylneuraminidase, usually with a partial defect of β-galactosidase; infantile and juvenile forms are less severe
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Sialidosis type II has an earlier onset and is the more severe form.