Short limbs, abnormal face, and congenital heart
Cardiofacial Short Limbs Syndrome.
Only one case has been
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