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. [
Brachytelephalangic chondrodysplasia punctata with distinctive phenotype and normal karyotype
β Scribed by Zizka, J.; Charvat, J.; Baxova, A.; Balicek, P.; Kozlowski, K.
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 25 KB
- Volume
- 76
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19980319)76:3<213::aid-ajmg3>3.0.co;2-r
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