Multiple congenital anomaly consisting of agenesis of
corpus callosum; telecanthus; short palpebral fissures; small nose with
anteverted nares; Pierre Robin sequence; malformed ears; redundant neck skin;
macrocephaly; micrognathia; laryngeal and sublaryngeal abnormalities; heart
defect (pulmonary stenosis and atrial septal defect); muscular hypotonia;
occasional Hirschsprung Disease; and moderate to severe developmental delay.
Agenesis of the Corpus Callosum with Facial Anomalies and
This syndrome is familial and was originally
reported as an autosomal recessive trait; however, later findings indicated
an X-linked transmission.
Demonstration of corpus callosum agenesis; telecanthus;
short palpebral fissures; small nares; Pierre Robin sequence; redundant neck skin;
laryngeal anomalies; congenital heart disease; short hands; and hypotonia.
Laryngeal hypoplasia is the most common laryngeal
anomaly described. Tracheal intubation for respiratory failure as a
consequence of hypotonia may be necessary in the neonatal period. Cerebellar
and brainstem hypoplasia are described in addition to corpus callosum
agenesis. Seizures have been a feature in some patients. Mental retardation
may be severe. Congenital heart disease appears to be a common, although
Careful airway assessment. Potential
difficult direct laryngoscopy; laryngeal hypoplasia may further complicate
attempts to intubate the trachea. Examine for signs of intercurrent lung disease, and
hypotonia causing respiratory impairment. Careful examination for signs of
congenital heart disease, low threshold for preoperative echocardiography
and ECG. Cardiac catheterization as indicated by specific cardiac lesion.
Continue any antiepileptic drugs during the perioperative period.
Difficult airway management should be
presumed, inhalational induction may be the method of choice. The maintenance of
spontaneous respiration is highly recommended until the trachea has been intubated and
lung ventilation confirmed. Prepare a selection endotracheal tubes (smaller than predicted) prior to induction.
The availability of proper size laryngeal mask airway and/or fiberoptic equipment is
indicated. The specific anesthetic technique will be dictated by the presence of
congenital heart disease. Regional techniques may be of use if not contraindicated.
There are no reports of anesthesia
for this syndrome, although succinylcholine should probably be avoided in the
presence of marked hypotonia.
Jespers A, Buntix I, Melis K et al: Two siblings with midline field
defects and Hirschsprung disease: Variable expression of Toriello-Carey
syndrome or new syndrome? Am J Med Genet
Toriello H, Carey J: Corpus callosum agenesis, facial anomalies, Robin
sequence, and other anomalies: A new autosomal recessive condition? Am J Med Genet