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Extremely rare syndrome with dextrocardia and facial, ophthalmologic, and neurologic abnormalities.

Dextrocardia with Unusual Facies and Microphthalmia Syndrome.

Two presumably unrelated Arab children, both born to consanguineous parents, have been described, suggesting that autosomal recessive transmission is most likely.

The two children had dextrocardia associated with sloping forehead, microphthalmia, prominent nose, micrognathia, and plantar folding. One child had a cleft palate, mental retardation, and choreoathetosis; the other child had vertebral fusion defects and supernumerary ribs.

Prior to anesthesia, associated malformations must be assessed. Difficult tracheal intubation should be expected secondary to the described malformations. Adequate anxiolysis often is helpful in the management of mentally retarded patients.

Goldenhar Syndrome: Common birth defect of vascular origin involving first and second branchial arch derivatives, resulting mainly in facial and vertebral anomalies.

Aughton DJ: New syndrome? Clinical anophthalmia, dextrocardia, and skeletal anomalies in an infant born to consanguineous parents. Am J Med Genet 37:178, 1990.  [PubMed: 2248283]
Nachlieli T, Gershoni-Baruch R: Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents. Am J Med Genet 42:458, 1992.  [PubMed: 1609828]

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