Isaac Erbele's avatar

Isaac Erbele

@isaacerbele.bsky.social

Okay, you caught my attention with "ear bone."

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Isaac Erbele's avatar Isaac Erbele @isaacerbele.bsky.social
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So, it's a very compelling story, but assuming Trisomy 21 is a bit reductive without additional evidence. The authors mention (rarer) Waadenburg as an alternative--those malformations can be quite variable. I've also seen Usher's with similar, mild dysplasia. And EVA doesn't have to be syndromic.

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