Role of 3-dimensional ultrasound rendering in diagnosis and counseling of Treacher Collins Syndrome: a case report
ePoster
Authors: Alyssa Stiff, Kirk Kerkorian School of Medicine at UNLV Megumi Akiyama, University of Nevada Las Vegas Heather Sedlacek, UNLV Health
Treacher Collins Syndrome (TCS) is a rare autosomal dominant disorder that can be very difficult to diagnose antenatally due to subtle sonographic features that may be missed if not carefully evaluated for. We present a case of TCS which was diagnosed postnatally; however, upon review of the original sonographic images, there were phenotypic characteristics of TCS prenatally. 2-D US can be limited in evaluating for abnormal facies; however, the 3-D US images available in this case are superior in picking up the subtle facial characteristics of TCS including bilateral down slanting palpebral fissures. This may also assist in more detailed history taking in families without high health literacy.