声带角化症

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TUhjnbcbe - 2021/3/22 2:35:00

文献来源:《PediatricOculoplasticSurgery》(SecondEdition)。

LipoidProteinosis类脂蛋白沉着症Lipoidproteinosis,alsoknownashyalinosiscutisetmucosaeandUrbach-Wiethesyndrome,isanautosomalrecessivedisordercausedbymutationsinECM1,anextracellularmatrixglycoproteininvolvedintissuehomeostasis.Thedisorderischaracterizedbytheabnormaldepositionofhyalinematerialintotheskin,oralandlaryngealmucosa,andviscera.Patientsinitiallypresentatbirthorshortlythereafterwithhoarsenessandalow-pitchedcrysecondarytolaryngealinvolvement.Theoralmucousmembranesbe

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