Unique cardiac and cerebral anomalies with chondrodysplasia punctata

• Published in: American journal of medical genetics 1998-01, Vol.75 (1), p.59-61
• Main Authors: Ciske, David J., Waggoner, Darrel J., Dowton, S. Bruce
• Format: Article
• Language: English
• Subjects: Aortic Coarctation - genetics; Aortic Coarctation - pathology; atrioventricular canal; Biological and medical sciences; brachytelephalangy; Brain - abnormalities; brain anomalies; Calcinosis - genetics; Calcinosis - pathology; chondrodysplasia punctata; Chondrodysplasia Punctata - genetics; Chondrodysplasia Punctata - pathology; coarctation of the aorta; Diseases of the osteoarticular system; Female; Fingers - abnormalities; Humans; Infant, Newborn; Liver - abnormalities; Liver - diagnostic imaging; Malformations and congenital and or hereditary diseases involving bones. Joint deformations; Medical sciences; Pregnancy; Syndrome; Ultrasonography
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19980106)75:1<59::AID-AJMG13>3.0.CO;2-R

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]. Am. J. Med. Genet. 75:59–61, 1998. © 1998 Wiley‐Liss, Inc.