CRANIOFACIAL MORPHOLOGY OF CONOTRUNCAL ANOMALY FACE SYNDROME

Objective and Design: The conotruncal anomaly face syndrome (CTAF) com prises congenital heart disease and dysmorphic face, and is frequently associated with cleft palate or hypernasality. There have been many d iscussions 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 cephalo metric analyses, and to clarify the differences compared to published data on VCF. Results: The facial features of CTAF included hypertelori sm, small palpebral fissures, upward slanting of palpebral fissures, b loated eye lids, low nasal bridge, small mouth, open mouth at rest, an d malformed auricles. Cephalometric features included bialveolar protr usion, small genial angle, backward rotation of the mandibular ramus, and labial inclination of the maxillary incisors. An acute cranial bas e angle was also noted. These results differed from those of VCF. Ther e were, however, no obvious pathognomonic findings for the differentia l diagnosis between CTAF and VCF. Conclusions: Considering these findi ngs, use of CATCH 22, the inclusive classification of cardiac anomalie s, cleft palate, and dysmorphic face may be of value for the clinical understanding in these patients.