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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 Robin Sequence.

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 inconsistent, finding.

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 47:299, 1993.  [PubMed: 8213924]
Toriello H, Carey J: Corpus callosum agenesis, facial anomalies, Robin sequence, and other anomalies: A new autosomal recessive condition? Am J Med Genet 31:17, 1988.  [PubMed: 3223497]

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