Unique cardiac and cerebral anomalies with chondrodysplasia punctata | Macquarie University ResearchOnline

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Title: Unique cardiac and cerebral anomalies with chondrodysplasia punctata
Related: American journal of medical genetics. Part A, Vol. 75, Issue 1, (1998), p.59-61
DOI: 10.1002/(SICI)1096-8628(19980106)75:1<59::AID-AJMG13>3.0.CO;2-R
Publisher: John Wiley & Sons
Date: 1998
Author/Creator: Ciske, David J
Author/Creator: Waggoner, Darrel J
Author/Creator: Dowton, S. Bruce
Description: 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].
Description: 3 page(s)
Subject Keyword: Atrioventricular canal
Subject Keyword: Brachytelephalangy
Subject Keyword: Brain anomalies
Subject Keyword: Chondrodysplasia punctata
Subject Keyword: Coarctation of the aorta
Resource Type: journal article
Organisation: Macquarie University. Office of the Vice-Chancellor

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