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KEYWORDS John Langdon Down / Down's syndrome
Provenance and Peer review: Commissioned; Peer reviewed; Accepted for publication September 2012.
When I was a medical student in the 1940's we youngsters were well familiar with the condition called 'Mongolism'. We saw these patients - labelled 'Mongols' - as children in the paediatric clinics, and as older patients on our visits to the local enormous mental hospital during our attachment in psychiatry, where many of them spent the whole of their lives.
We learned the clinical facts of this syndrome. It was especially likely to occur In babies born to mothers over the age of 40, which was not common in those days, and it accounted for one third of serious mental handicap at school age. As we listened to the chests of these patients we learned the association with congenital cardiac lesions including atrial and ventricular septal defects and Fallot's tetralogy, (pulmonary stenosis, right ventricular hypertrophy, ventricular septal defect and overriding aorta). This tetralogy, by the way, is named after Etienne Fallot (1850-1911), who was Professor of Medicine and Hygiene in Marseilles.
The clinical features of these patients that we saw in the clinic were usually quite obvious and could be suspected at birth. The round face, flat nasal bridge, the epicanthic fold of the eye, (a fold of skin running round the inner edge of the palpebral fissure), the small mouth and the protruding tip of the tongue were quite typical. Later problems included delayed milestones, small stature and moderate...