Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents.
We report on an infant (born to consanguineous parents) with an unusual face, microphthalmia, cleft palate, dextrocardia, choreoathetosis, and mental retardation. This child has many traits in common with an infant recently described by Aughton [1990] as a probable new syndrome.
Nachlieli
T
T
Department of Pediatrics A, Rambam Medical Center, Haifa, Israel.
Gershoni-Baruch
R
R
D000015:Abnormalities, Multiple / Q000473:pathology*; D001264:Athetosis; D002972:Cleft Palate; D003241:Consanguinity; D003914:Dextrocardia; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability; D008297:Male; D008850:Microphthalmos; D013577:Syndrome