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J. C. P. Williams
New Zealand cardiologist, born late 1930's.
Associated eponyms:
Williams-Beuren syndrome
A congenital syndrome of characteristic elfinlike facies, mental retardation, growth deficiency, cardiovascular anomalies (supraventricular aortic stenosis), and idiopathic infantile hypercalcaemia.
Biography:
We thank the Williams Syndrome Foundation for persmission to use this information about J. C. P. Williams, excerpted from the WS Comprehensive Web Site.
The mystery of Dr. J.C.P. Williams after whom the syndrome is named, is still unsolved.
Dr. Williams was the Registrar at Greenlane Hospital in Auckland, New Zealand when he noticed that a number of children coming in for heart surgery (many of them with supravalvular aortic stenosis) shared other features in common with each other.
They had similar facial features - they were chatty and outgoing - rather undersized and appeared to suffer from varying degrees of mental retardation. He wondered if there could be a syndrome involved.
He spoke to the cardiac consultants, his Chiefs at the time, and was given the go ahead to conduct further investigations and a paper on the subject was printed in Medical journals in 1961. Families still living in New Zealand who were involved in his research report Dr. Williams as being a very charming and gentle man.
Dr Williams worked at Greenlane until 1964 when he was offered a job at the Mayo Clinic in the USA. This position was kept open for him, but as he never showed up it was given to someone else.
Dr. Williams then went to London to work, but when the Mayo Clinic offered him another post he again failed to appear.
He then disappeared, and his family didn't know of his whereabouts except that a suitcase was left in a luggage office in London which was never claimed.
Excerpt from a talk on the history and growth of Williams Syndrome Support Groups. Given by Kit Crawford to the NZWSA National Camp at Paraparaumu in January 1999.
We also thank Kristin Boxall for information submitted.
Bibliography:
- J. C. P. Williams, B. G. Barratt-Boyes, J. B. Lowe:
Supravalvular aortic stenosis.
Circulation, Dallas, Texas, 1961, 24: 1311.
Williams-Beuren syndrome.
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