PEDIATRICS Vol. 46 No. 6 December 1970, pp. 940-942
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Can the de Lange Syndrome Always Be Diagnosed at Birth?

H. Pashayan M.D.1, E. P. Levy M.D.2, and F. C. Fraser M.D.2

1 McGill University-Montreal Children's Hospital Research Institute, 2300 Tupper Street Montreal 108, P.Q., Canada
2 Department of Medical Genetics of the Montreal Children's Hospital, Human Genetics Sector, Department of Genetics McGill University, 2300 Tupper Street Montreal 108, P.Q., Canada

The comment "... The children are diagnosable at birth. This resemblance to one another is as striking to us as the resemblance of mongols to each other"1 holds true for most, but not all cases of the de Lange syndrome.2,3

This paper will describe a patient who at the age of 9 months had features suggestive of Turner's syndrome, and at the age of 21 months had the typical appearance of the de Lange syndrome.

Case Report

The patient, a Caucasian female, was the third child of unrelated parents who were 28 and 30 years old respectively when she was born January 29, 1968.