Coffin-Siris syndrome: Review and presentation of new cases from a questionnaire study

Barbara J. Fleck, Arti Pandya, Lauren Vanner, Kathryn Kerkering, Joann Bodurtha

Research output: Contribution to journalReview article

Abstract

To clarify the phenotypic variability of Coffin-Siris syndrome, we present a review of the literature and 18 new cases. We performed a questionnaire study of patients ascertained through an international support group. Information on their sibs was available for comparison. The most frequent findings include some degree of mental retardation or developmental delay, "coarse" facial appearance, feeding difficulties, frequent infections, and hypoplastic to absent fifth fingernails and fifth distal phalanges. We discuss the key manifestations for diagnosis, medical and developmental implications, and possible pathogenesis.

Original languageEnglish (US)
Pages (from-to)1-7
Number of pages7
JournalAmerican journal of medical genetics
Volume99
Issue number1
DOIs
StatePublished - Feb 15 2001
Externally publishedYes

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Keywords

  • Clinical morphology
  • Delineation of disease
  • Natural history

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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