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At a glance

It is an extremely rare medical condition characterized by severe intellectual disability, hypoplastic corpus callosum, preauricular tag microcephaly, camptodactyly, growth retardation, and recurrent bronchopneumonia.

N.B.: It is important not to confuse this disorder with the Richieri Costa Da Silva Syndrome (also known as the Myotonia Skeletal Abnormalities Mental Retardation Syndrome). It is characterized by myotonia, progressive impairment of gait, alterations in the thorax and vertebral column, short stature, and mild to moderate mental retardation.


Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome.


It is an extremely rare medical condition and the estimated incidence remains unknown. To date, it has been described in four patients in two families.

Genetic inheritance

It is believed inherited as autosomal recessive transmission.

Clinical aspects

The most consistent features of this syndrome are microcephaly, hypoplastic corpus callosum, aqueductal stenosis with enlarged ventricles, severe mental retardation, large ears with preauricular skin tags, profound growth retardation, camptodactyly, and recurrent bronchopneumonias. Electroencephalographs reportedly are normal; however, hypertonicity and hyperreflexia of all limbs have been described as a common symptom. Mild micrognathia and high arched palate were additional signs. Death in the three patients initially described occurred between age 10 and 32 months, most likely as a consequence of bronchopneumonia. One patient who was alive at age 7 years suffered from recurrent pneumonias and persistent esophagitis secondary to gastroesophageal reflux.

Anesthetic considerations

No references to anesthesia exist. However, intracranial pressure can be elevated, and an anesthetic technique tailored accordingly should be provided. Micrognathia usually is mild, and airway management should not be affected. Because of gastroesophageal reflux, a rapid-sequence induction is strongly suggested. Depending on the procedure, patients may need postoperative mechanical ventilation. A preoperative chest radiograph is recommended. Elective surgery should be postponed until bronchopneumonia and other airway infections are resolved. Recurrent bronchopneumonias may affect pulmonary gas exchange, and increased secretions in the acute phase (for emergency surgery) may result in obstruction of the endotracheal tube (particularly in small patients).

Other conditions to be considered

  • Zellweger Syndrome: Characterized by the congenital absence of functioning peroxisomes resulting in a Cerebrohepatorenal Syndrome.

  • Aicardi Syndrome: Combination of myoclonic seizures with a characteristic EEG pattern, lacunar chorioretinopathy, and complete or partial agenesis of the corpus callosum is a characteristic for this X-linked dominant inherited syndrome.

  • Schinzel Acrocallosal Syndrome: Very rare autosomal recessive, complex, polymalformative disease with prominent neurologic and skeletal anomalies. Anesthetic procedure must consider craniofacial malformations (intubation).

  • FG Syndrome: X-linked form of mental retardation associated with complete or partial agenesis of the corpus callosum and minor facial, skeletal, and gastrointestinal anomalies.

  • Andermann Syndrome: Inherited neurodegenerative disorder with progressive sensorimotor neuropathy.

  • Cerebro-Reno-Digital Syndrome: Autosomal recessive inherited ...

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