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Short limbs, abnormal face, and congenital heart disease.

Cardiofacial Short Limbs Syndrome.

Only one case has been described.

The child presented at birth with oxygenation failure caused by a severe congenital heart defect described as single ventricle with absent left ventricle, absent mitral valve, and truncus arteriosus. The boy also showed features of chondrodysplastic dwarfism with short limbs, cryptorchism, and facial anomalies, including prominent nasal bridge, epicanthal folds, and micrognathia. He died in the newborn period.

If tracheal intubation is warranted, anesthetic principles of hypoplastic left heart syndrome physiology apply, including careful titration of oxygenation to prevent pulmonary overcirculation and excessive hypoxemia with risk of myocardial failure. In addition, if an active management strategy is chosen, prostaglandin E1 is needed until surgical systemic-to-pulmonary shunt is established. Facial anomalies may result in difficult airway management.

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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