The Coffin-Siris Syndrome

Walter W. Tunnessen, Julia McMillan, Mark B. Levin

Research output: Contribution to journalArticle

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 languageEnglish (US)
Pages (from-to)393-395
Number of pages3
JournalAmerican Journal of Diseases of Children
Volume132
Issue number4
DOIs
StatePublished - 1978
Externally publishedYes

Fingerprint

Autopsy
Dandy-Walker Syndrome
Toes
Nails
Intellectual Disability
Fingers
Growth
Coffin-Siris syndrome

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

The Coffin-Siris Syndrome. / Tunnessen, Walter W.; McMillan, Julia; Levin, Mark B.

In: American Journal of Diseases of Children, Vol. 132, No. 4, 1978, p. 393-395.

Research output: Contribution to journalArticle

Tunnessen, Walter W. ; McMillan, Julia ; Levin, Mark B. / The Coffin-Siris Syndrome. In: American Journal of Diseases of Children. 1978 ; Vol. 132, No. 4. pp. 393-395.
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