Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome

摘要

Auriculocondylar syndrome (ACS, OMIM 602483 and 614669) is a rare craniofacial disorder affecting derivatives of the first and second branchial arches (BAs), and is characterized by mandibular hypoplasia, condylar abnormalities, microstomia, full cheeks, and a distinctive anomaly of the pinnae involving variable constriction between the lobe and helix, known as a question mark ear (QME). The majority of ACS patients harbor heterozygous missense mutations in phospholipase C, beta 4 (PLCB4) and guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3 {GNAI3) [Rieder et al., 2012; Gordon et al, 2013].