Sixty-four patients with Brachmann-de Lange syndrome: A survey
β Scribed by Hawley, Pamela P. ;Jackson, Laird G. ;Kurnit, David M. ;Opitz, John M. ;Reynolds, James F.
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 432 KB
- Volume
- 20
- Category
- Article
- ISSN
- 0148-7299
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## Abstract We analyzed the prometaphase chromosomes of 5 patients (including one pair of sibs) with the Brachmannβde Lange syndrome (BDLS), and did not find a significant chromosome abnormality in any of them. It appears that two distinct entities can be distinguished on clinical and chromosomal b
## 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