The Coffin-Siris Syndrome

Walter W. Tunnessen; Julia A. Mcmillan; Mark B. Levin

doi:10.1001/archpedi.1978.02120290065011

The Coffin-Siris Syndrome

Walter W. Tunnessen, Julia A. Mcmillan, Mark B. Levin

Research output: Contribution to journal › Article › peer-review

24 Scopus citations

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.

Original language	English (US)
Pages (from-to)	393-395
Number of pages	3
Journal	American Journal of Diseases of Children
Volume	132
Issue number	4
DOIs	https://doi.org/10.1001/archpedi.1978.02120290065011
State	Published - Apr 1978
Externally published	Yes

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health

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10.1001/archpedi.1978.02120290065011

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title = "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.",

author = "Tunnessen, {Walter W.} and Mcmillan, {Julia A.} and Levin, {Mark B.}",

year = "1978",

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AB - 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.

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The Coffin-Siris Syndrome

Abstract

ASJC Scopus subject areas

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