Cerebrocostomandibular Syndrome

A syndrome of mental retardation, palatal defects, micrognathia, and severe costovertebral abnormalities. Often lethal in infancy.

Smith-Theiler-Schachenmann Syndrome; Rib Gap Syndrome; Rib Gap Defects with Micrognathia.

First described by D.W. Smith, K. Theiler, and G. Schachenmann in 1966.

Approximately 60 cases have been described.

Familial cases with both autosomal recessive and autosomal dominant patterns have been reported (clinically indistinguishable). However, sporadic cases have been described, and the disorder has been suggested to be genetically heterogeneous.

Unknown.

Based on clinical or radiologic findings of facial malformations associated with severe costovertebral impairment (posterior rib gap defects are mandatory for the diagnosis).

The disease mainly involves the head and neck (brachycephaly, micrognathia, partial facial hypoplasia, multifocal growth retardation involving vomer, nasoseptal cartilage, and mandibular condyles, indicative of maxillomandibular growth arrest, short hard palate with central defect, absent soft palate and uvula, glossoptosis, webbed neck, posterior nuchal skin folds) and the skeleton (kyphoscoliosis, narrow rib cage, severe costovertebral abnormalities, multiple posterior rib gap defects filled with fibrovascular tissue resulting in flail chest, pectus carinatum). Mental retardation, neural tube defects, absence of the olfactory bulbs, impaired hearing, intrauterine and postnatal growth retardation, pulmonary hypoplasia with neonatal respiratory distress, and cardiac disease (ventricular septal defect) can be associated with this disorder. One case was reported with hypoplastic left heart syndrome, and another case involved omphalocele and cystic hygroma. In more than half of the patients, death occurs in the first year of life and usually results from respiratory complications.

Assess respiratory function (clinically, chest radiographs, computed tomography scanning, arterial blood gas analysis). Stridor may indicate tracheal stenosis. Evaluate the anatomy with regard to airway management secondary to facial anomalies. Signs and symptoms of spinal cord compression secondary to kyphoscoliosis should be sought.

Anesthesia in this condition has not been described. However, because the facial anomalies in these patients have also been referred to as Pierre Robin anomaly, airway management should be expected to be difficult. Alternative airway management techniques should be available (e.g., fiberoptic bronchoscope, [intubating] laryngeal mask airway, retrograde intubation) and spontaneous ventilation maintained until the airway has been secured. Flail chest, restrictive lung disease, and tracheal lesions predispose to perioperative respiratory complications and may result in prolonged postoperative mechanical ventilation. Pulmonary hypoplasia and hyphoscoliasis could both result in increased right ventricular pressures and indicate the need for echocardiography. Tracheal stenosis may require a smaller than predicted endotracheal tube. Central neuraxial blockade should be expected to be difficult considering the vertebral anomalies.

Muscle relaxants should be avoided until the airway has been secured. Subacute bacterial endocarditis prophylaxis may be necessary.

Pierre Robin Syndrome: A congenital syndrome with multiple etiologies characterized by mandibular hypoplasia/aplasia. It is characterized by the association of cleft palate, glossoptosis and micrognathia.