Unique cardiac and cerebral anomalies with chondrodysplasia punctata

David J. Ciske, Darrel J. Waggoner, S. Bruce Dowton*

*Corresponding author for this work

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies, and clinical findings that resemble those of the sibs described by Toriello et al. [1993, Am J Med Genet 47:797-799]. The cardiac defects and CNS abnormalities reported are unique in the context of CDP and may serve to expand the phenotypic spectrum of the unique form of CDP described by Toriello et al. [1993].

Original languageEnglish
Pages (from-to)59-61
Number of pages3
JournalAmerican Journal of Medical Genetics
Volume75
Issue number1
DOIs
Publication statusPublished - 6 Jan 1998
Externally publishedYes

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