• A patient had a trisomy for the distal portion of the third chromosome. The major clinical features were failure to thrive, profound mental retardation, dysmorphic head shape, a short nose, anteverted nares, long eyelashes, synophrys, characteristic mouth, and short stature. The similarities between the clinical picture and the Cornelia de Lange syndrome are very striking.
(Am J Dis Child 133:727-730, 1979)
Sciorra LJ, Bahng K, Lee M. Trisomy in the Distal End of the Long Arm of Chromosome 3A Condition Clinically Similar to the Cornelia de Lange Syndrome. Am J Dis Child. 1979;133(7):727-730. doi:10.1001/archpedi.1979.02130070063013