The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot.
A male infant is described with mandibulofacial dysostosis and absent thumbs, consistent with the Nager acrofacial dysostosis syndrome. In addition, the tetralogy of Fallot was present. Major congenital heart malformations occur rarely in this syndrome.
D000015:Abnormalities, Multiple / Q000150:complications*; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome; D013771:Tetralogy of Fallot / Q000150:complications*; D013933:Thumb / Q000002:abnormalities