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The Coffin-Siris Syndrome

The Coffin-Siris Syndrome Abstract • We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported. (Am J Dis Child 132:393-395, 1978) http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120290065011
Publisher site
See Article on Publisher Site

Abstract

Abstract • We present the sixth reported case of the Coffin-Siris syndrome. This disorder is characterized by the absence of the nails of the fifth fingers and toes, severe mental and developmental retardation, and postnatal growth deficiency. Feeding and respiratory problems are prominent features. The Dandy-Walker malformation was found at autopsy in our patient. This malformation was also present in the only other patient with this syndrome whose autopsy has been reported. (Am J Dis Child 132:393-395, 1978)

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Apr 1, 1978

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