This is Cornelia de Lange - remember if the gene panel is negative could be because

- it’s a mimic
-some cases are gene testing negative
-it can be mosaic

You can make a clinical diagnosis based on the gestalt but research may help you find the cryptic causative variant(S).
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RT @DrAshM2
If you see a child with limb anomalies who looks like this - do you know the genetic spot diagnosis?

Pic from : PMID: 21165303

#MedEd #FOAMed #twe…
https://twitter.com/DrAshM2/status/1641862935424434176

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