Craniofacial Morphology of Conotruncal Anomaly Face Syndrome

Objective and Design: The conotruncal anomaly face syndrome (CTAF) comprises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many discussions about the overlap with velocardiofacial syndrome (VCF). The aim of this study was to clarify the craniofacial characteristics of CTAF patients by clinical examination, and photogrammetric and cephalometric analyses, and to clarify the differences compared to published data on VCF. Results: The facial features of CTAF included hypertelorism, small palpebral fissures, upward slanting of palpebral fissures, bloated eye lids, low nasal bridge, small mouth, open mouth at rest, and malformed auricles. Cephalometric features included bialveolar protrusion, small gonial angle, backward rotation of the mandibular ramus, and labial inclination of the maxillary incisors. An acute cranial base angle was also noted. These results differed from those of VCF. There were, however, no obvious pathognomonic findings for the differential diagnosis between CTAF and VCF. Conclusions: Considering these findings, use of CATCH 22, the inclusive classification of cardiac anomalies, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.