Typical asymmetry during crying associated with visceral
Asymmetrical Crying Facies with Cardiac Defect; Cayler
Type of Cardiofacial Syndrome; Hypoplasia of Depressor Anguli Oris Muscle
with Cardiac Defect.
Sporadic or familial disorder. Estimates vary between
0.63% and 0.82% of the general population. Male-to-female ratio 2:1.
Either autosomal dominant or multifactorial.
An association with pericentric inversion of chromosome 15
and with deletion of chromosome 22q11.2 has been reported.
Congenital hypoplasia or agenesis of the depressor
anguli oris muscle on one side of the mouth results in facial asymmetry that
is evident during crying.
Based on clinical and/or
electromyographic findings. Affected infants suck well without drooling from
either corner of the mouth and have normal forehead wrinkling, eye closure,
and nasolabial fold depth, all of which exclude facial nerve palsy.
Unilateral asymmetry of the face during crying,
because of predominantly left-sided defects of the depressor anguli oris.
Associated anomalies involve the head (mental retardation, microcephaly,
cerebral cortical atrophy, prominent ears, micrognathia, retrognathia, cleft
palate, anodontia), the heart (atrial septal defects, ventricular septal
defects, conotruncal anomalies, and tetralogy of Fallot), and the viscera (respiratory distress,
diaphragmatic hernia, polycystic kidneys, hydronephrosis, hypoplasia of
kidneys, ectopic testes). Short stature has been described.
Hypoparathyroidism and hypocalcemia have been reported in at
least one patient.
Thoroughly assess the patient for
signs of cardiac lesions (clinically, echocardiography, electrocardiogram)
and renal anomalies and insufficiency (ultrasound, blood work). Check for
difficult airway management. Mental retardation may impair cooperation.
Sedative and/or anxiolytic premedication and the presence of the primary
caregiver during induction of anesthesia may be helpful.
Given the anatomical
anomalies of the face, airway management must be expected to be
difficult. The recommendation is to maintain spontaneous
ventilation until the airway has been secured. Alternative
airway management techniques should be considered (e.g.,
fiberoptic intubation, laryngeal mask airway). Congenital
cardiac defects require specific anesthetic precautions and
Avoid neuromuscular blockers until
the airway has been secured. Subacute bacterial endocarditis prophylaxis may
DiGeorge Syndrome: a genetic defect leading to a wide range of phenotypic presentations, mainly
developmental defects in the outflow tracts of the heart, hypoparathyroidism with hypocalcemia, and thymic
aplasia or hypoplasia with immune defects.
Akcacus M, Ozkul Y, Gunes T, et al: Associated anomalies in
asymmetric crying facies and 22q11 deletion. Genet Couns
Cayler GG: An epidemic of congenital facial paresis and heart disease.
Pediatrics 40:666, 1967.
Lin DS, Huang FY, Lin SP, et al: Frequency of associated anomalies in
congenital hypoplasia of depressor anguli oris muscle: A study of 50
patients. Am J Med Genet