Mid-trimester fetal facial dysmorphology associated with 2p25.3 microdeletion.

Abstract excerpt

We describe unusual mid-trimester sonography of subtle fetal facial dysmorphic features including; flattened nasofrontal angle with an almost vertically positioned nasal bone, acute nasolabial angle, and convexity of the maxillary areas in a fetus with otherwise normal anatomy. Microarray identified a 64.5 KB interstitial deletion of 2q25.3, which includes one exon of MYT1L. Mutations and deletions in MTY1L have...

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