Cayler cardiofacial syndrome with situs inversus totalis

Abstract

Cayler cardiofacial syndrome is characterised by congenital unilateral hypoplasia of the depressor anguli oris muscle (DAOM) in association with congenital cardiac defects. Hypoplasia of this muscle causes inability to move one corner of the mouth downward and outward while crying or grimacing, giving rise to an 'asymmetric crying face' appearance. A variety of congenital cardiac defects have been described. Occasionally, other organ system anomalies may be additionally present. We present an instance of right-sided hypoplasia of the DAOM in a male newborn, which additionally had dextrocardia as a component of situs inversus totalis. To our knowledge, situs inversus totalis has not been previously documented as a part of this syndrome. Additionally, we reiterate that paediatricians need to be aware that this minor facial anomaly may be associated with severe internal organ system anomalies, with cardiac being most common.