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At a glance

Short limbs, abnormal face, and congenital heart disease.

Synonym

Cardiofacial Short Limbs Syndrome.

Incidence and genetic inheritance

Only one case has been described. The parents were unrelated and healthy.

Diagnosis

Based on the clinical findings.

Clinical aspects

The child presented at birth with cyanosis due to a severe congenital heart defect described as a single ventricle lesion with absent left ventricle, hypoplastic left atrium, truncus arteriosus, and absent mitral valve. The boy also showed features of severe rhizomesomelic, chondrodysplastic dwarfism affecting the upper limbs more severely than the lower limbs, bilateral mild talipes equinus, facial anomalies (narrow palpebral fissures, epicanthal folds, prominent nasal bridge, and micrognathia), short neck and cryptorchidism. He died on day 24 of life from heart failure.

Precautions before anesthesia

Review the echocardiographic findings. Assess for difficult airway management in the presence of micrognathia.

Anesthetic considerations

The facial anomalies may result in difficult airway management. If difficult airway management is expected, maintenance of spontaneous ventilation is recommended until the airway has been secured. Alternative airway management options should be immediately available (eg, supraglottic airway device, fiberoptic bronchoscope) and adherence to an established difficult airway algorithm is advised. A surgeon familiar with surgical airway management and the necessary equipment should easily be available in the operating room. Alternatively, an awake fiberoptic intubation should be considered. The cardiac anomalies will require a specific and tailored anesthetic approach. Meticulous attention should be paid to avoid air bubbles in infusion-lines in patients with right-to-left shunts. In this patient, the anesthetic principles of single ventricle physiology would apply, including careful titration of ventilation to provide sufficient systemic oxygen delivery to avoid excessive hypoxemia and risk of myocardial ischemia and at the same time preventing pulmonary overcirculation with high saturations and the potential for low systemic blood flow. In addition, if an active management strategy is chosen, prostaglandin E1 (alprostadil) is needed to maintain patency of the ductus arteriosus until a surgical systemic-to-pulmonary shunt (eg, Blalock-Taussig shunt) has been established. Prostaglandin E1 infusion can lead to mild fever, apnea, tachycardia, arterial hypotension, and necrotizing enterocolitis.

Pharmacological implications

None specific to this syndrome.

Reference

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Barrow  M, Fitzsimmons  JS: A new syndrome. Short limbs, abnormal facial appearance, and congenital heart defect. Am J Med Genet 18:431, 1984.  [PubMed: 6476004]

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