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.
First described by Toriello and Carey in 1988.
Agenesis of the Corpus Callosum with Facial Anomalies and Robin Sequence; Corpus Callosum Agenesis-Blepharophimosis-Robin Sequence Syndrome.
Originally, since the condition was observed in siblings, it was postulated to be an autosomal recessive multiple anomaly syndrome. However, several unrelated patients were subsequently reported which made it apparent that it was etiologically heterogeneous. Nevertheless, at least 20% of patients are estimated to have a chromosomal anomaly. Genetic evidence in two candidates help identify anomalies into two different genes, ie, MN1 (22q12.1) with a microdeletion and SATB2 (2q33.1) in response to a de novo balanced translocation.
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 brain stem 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. Vertebral malformations, supernumerary ribs, malformation of the clavicles are observed on occasion. Death in the neonatal period is common, especially among boys.
Precautions before anesthesia
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 anticipated; 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 is confirmed. Prepare a selection endotracheal tube (smaller than predicted) prior to induction. The availability of appropriate sizes of laryngeal mask airways 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.