Unique cardiac and cerebral anomalies with chondrodysplasia punctata.
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].
Ciske
D J
DJ
Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Waggoner
D J
DJ
Dowton
S B
SB
D001017:Aortic Coarctation / Q000235:genetics* / Q000473:pathology; D001921:Brain / Q000002:abnormalities*; D002114:Calcinosis / Q000235:genetics / Q000473:pathology; D002806:Chondrodysplasia Punctata / Q000235:genetics* / Q000473:pathology; D005260:Female; D005385:Fingers / Q000002:abnormalities; D006801:Humans; D007231:Infant, Newborn; D008099:Liver / Q000002:abnormalities / Q000000981:diagnostic imaging; D011247:Pregnancy; D013577:Syndrome; D014463:Ultrasonography