Mild de Lange syndrome--does it exist?
A pair of mildly retarded, microcephalic twins (probably identical) are reported. They were initially diagnosed as having the de Lange syndrome on the basis of the synophrys, but, on follow-up, their main intellectual defect was in the area of expressive speech. It is suggested that the evidence in the literature for the existence of so-called mild de Lange is sparse and that the twins in this report might well have a different, possibly unique condition.
Baraitser
M
M
Department of Clinical Genetics, Hospital for Sick Children, London, UK.
Papavasiliou
A S
AS
D000293:Adolescent; D003635:De Lange Syndrome / Q000175:diagnosis*; D004200:Diseases in Twins / Q000175:diagnosis; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D001523:Mental Disorders / Q000175:diagnosis; D013064:Speech Disorders / Q000175:diagnosis