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.
This is a preview of subscription content, log in via an institution to check access.
Similar content being viewed by others
References
Bawle EV, Conard J, Van Dyke DL, Czarnecki P, Driscoll DA (1998) Seven new cases of Cayler cardiofacial syndrome with chromosome 22q11.2 deletion, including a familial case. Am J Med Genet 79:406–10
Cayler GG (1969) Cardiofacial syndrome. Congenital heart disease and facial weakness, a hitherto unrecognized association. Arch Dis Child 44:69–75
Giannotti A, Digilio MC, Marino B, Mingarelli R, Dallapiccola B (1994) Cayler cardiofacial syndrome and del 22q11: part of the CATCH22 phenotype. Am J Med Genet 53:303–4
Lahat E, Heyman E, Barkay A, Goldberg M (2000) Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature. J Child Neurol 15:808–10
Levin SE, Silverman NH, Milner S (1982) Hypoplasia or absence of the depressor anguli oris muscle and congenital abnormalities, with special reference to the cardiofacial syndrome. S Afr Med J 61:227–31
Lin DS, Huang FY, Lin SP et al (1997) Frequency of associated anomalies in congenital hypoplasia of depressor anguli oris muscle : a study of 50 patients. Am J Med Genet 71:215–8
Papadatos C, Alexiou D, Nicolopoulos D, Mikropoulos H, Hadzigeorgiou E (1974) Congenital hypoplasia of depressor anguli oris muscle. A genetically determined condition? Arch Dis Child 49:927–31
Perlman M, Reisner SH (1973) Asymmetric crying facies and congenital anomalies. Arch Dis Child 48:627–9
Puñal JE, Siebert MF, Angueira FB, Lorenzo AV, Castro-Gago M (2001) Three new patients with congenital unilateral facial nerve palsy due to chromosome 22q11 deletion. J Child Neurol 16:450–2
Singhi S, Singhi P, Lall KB (1980) Congenital asymmetrical crying facies. Clin Pediatr (Phila) 19:673–5, 678
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Rai, B., Mallick, D., Thapa, R. et al. Cayler cardiofacial syndrome with situs inversus totalis. Eur J Pediatr 173, 1675–1678 (2014). https://doi.org/10.1007/s00431-013-2256-4
Received:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s00431-013-2256-4