In the 1960s, Cayler noticed five babies who were born with asymmetrical facial palsy, particularly the asymmetry of the lower lip, which was exclusively evident while crying and smiling. These babies concomitantly suffered from ventricular septal defects (Gayler 1967; Cayler 1969). Nelson and Eng and Pape and Pickering later attributed this to the congenital hypoplasia of the responsible facial muscle: the depressor anguli oris muscle (DAOM), which was inherited in an autosomal dominant attitude (Nelson and Eng 1972; Pape and Pickering 1972; Papadatos et al. 1974). Children with this facial palsy did not show the typical features of the palsy of a central or peripheral origin; the face was not asymmetric at rest, but the asymmetry of the lower lip appeared during smiling and especially crying (McHugh et al. 1969). However, forehead wrinkling, eye closure, and the nasolabial fold’s depth remain equal and normal on both sides (Fig. 1). These are the differentiating factors from facial nerve palsy. Also, feeding is not affected and it is without drooling (Rai et al. 2014). The defect is more prevalent on the left side (Lahat et al. 2000). Studying more cases led to the discovery of the association with other anomalies such as congenital heart diseases with this disorder (Singhi et al. 1980). However, some studies found a higher prevalence of the alone manifestation. Somehow, a higher frequency of the association of other congenital anomalies with DAOM hypoplasia in retrospective studies was attributed to the selection bias (Lahat et al. 2000). Nevertheless, the difference between the frequency of the congenital anomalies with DAOM hypoplasia and without was very significant (around eight folds) (Alexiou et al. 1976). The subgroup of these patients with accompanying congenital cardiac malformations would qualify as Caylor cardiofacial syndrome (Rai et al. 2014). In addition, microcephaly and mental retardation were found in some of these patients. Cayler cardiofacial syndrome is also called asymmetric crying facies (ACF). One study showed the neurologic involvement and other facial features in addition to cardiovascular, respiratory, musculoskeletal, head and neck, and genitourinary abnormalities (Caksen et al. 2004). The incidence ranges from 0.25% to 0.82% (Perlman and Reisner 1973; Papadatos et al. 1974; Singhi et al. 1980; Levin et al. 1982; Lin et al. 1997; Lahat et al. 2000). Two large prospective studies (Perlman and Reisner 1973; Alexiou et al. 1976) had an incidence of around 0.6, while a retrospective study had an incidence of 0.26 (Levin et al. 1982). Although the associated cardiac malformations are disproportionately high, the neurologic and otolaryngological associations are low (Perlman and Reisner 1973).

Cayler Cardiofacial Syndrome

动态工具书词条
发表日期：

2025年

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Shahrzad Shahrokhi Nejad,
Sepideh Razi

摘要

In the 1960s, Cayler noticed five babies who were born with asymmetrical facial palsy, particularly the asymmetry of the lower lip, which was exclusively evident while crying and smiling. These babies concomitantly suffered from ventricular septal defects (Gayler 1967; Cayler 1969). Nelson and Eng and Pape and Pickering later attributed this to the congenital hypoplasia of the responsible facial muscle: the depressor anguli oris muscle (DAOM), which was inherited in an autosomal dominant attitude (Nelson and Eng 1972; Pape and Pickering 1972; Papadatos et al. 1974). Children with this facial palsy did not show the typical features of the palsy of a central or peripheral origin; the face was not asymmetric at rest, but the asymmetry of the lower lip appeared during smiling and especially crying (McHugh et al. 1969). However, forehead wrinkling, eye closure, and the nasolabial fold’s depth remain equal and normal on both sides (Fig. 1). These are the differentiating factors from facial nerve palsy. Also, feeding is not affected and it is without drooling (Rai et al. 2014). The defect is more prevalent on the left side (Lahat et al. 2000). Studying more cases led to the discovery of the association with other anomalies such as congenital heart diseases with this disorder (Singhi et al. 1980). However, some studies found a higher prevalence of the alone manifestation. Somehow, a higher frequency of the association of other congenital anomalies with DAOM hypoplasia in retrospective studies was attributed to the selection bias (Lahat et al. 2000). Nevertheless, the difference between the frequency of the congenital anomalies with DAOM hypoplasia and without was very significant (around eight folds) (Alexiou et al. 1976). The subgroup of these patients with accompanying congenital cardiac malformations would qualify as Caylor cardiofacial syndrome (Rai et al. 2014). In addition, microcephaly and mental retardation were found in some of these patients. Cayler cardiofacial syndrome is also called asymmetric crying facies (ACF). One study showed the neurologic involvement and other facial features in addition to cardiovascular, respiratory, musculoskeletal, head and neck, and genitourinary abnormalities (Caksen et al. 2004). The incidence ranges from 0.25% to 0.82% (Perlman and Reisner 1973; Papadatos et al. 1974; Singhi et al. 1980; Levin et al. 1982; Lin et al. 1997; Lahat et al. 2000). Two large prospective studies (Perlman and Reisner 1973; Alexiou et al. 1976) had an incidence of around 0.6, while a retrospective study had an incidence of 0.26 (Levin et al. 1982). Although the associated cardiac malformations are disproportionately high, the neurologic and otolaryngological associations are low (Perlman and Reisner 1973).