Mild Brachmann-de Lange syndrome: Changes of phenotype with age
β Scribed by Greenberg, Frank ;Robinson, Luther K. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1989
- Tongue
- English
- Weight
- 284 KB
- Volume
- 32
- Category
- Article
- ISSN
- 0148-7299
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π SIMILAR VOLUMES
Severe mental retardation is the most handicapping disability for individuals with Brachmann-de Lange syndrome (BDLS). Reports of higher functioning patients with suspected BDLS have invariably described those with a "mild" BDLS somatic phenotype. Here we report on 2 high-functioning females, ages 3
## Abstract Congenital heart defects (CHDs) have been estimated to occur in βΌ20% of patients with Brachmannβde Lange syndrome (BDLS, also known as Cornelia de Lange syndrome, OMIM 122470). We report on the results of a prospective echocardiographic evaluation of a cohort of 87 Italian BDLS patients