1 Institut für Humangenetik, Universität Hamburg Martinistrasse 52, 2000 Hamburg 20, Germany
A recent report described the difficulties inherent in diagnosing the Cornelia de Lange (CdL) syndrome at birth.1 The authors observed a child who at the age of 9 months was thought to have the Turner syndrome, but instead developed the well-known features of the CdL syndrome within the following year.
This paper documents our experience with a young child over a period of 2 years. Initially, at the age of 8 and 11 months, she showed some features of the cri du chat syndrome, but by the age of 21 months she had developed the classical phenotype of having the CdL syndrome.
Clinical Data