Aortic root dilation in patients with 22q11.2 deletion syndrome
โ Scribed by Anitha S. John; Donna M. McDonald-McGinn; Elaine H. Zackai; Elizabeth Goldmuntz
- Publisher
- John Wiley and Sons
- Year
- 2009
- Tongue
- English
- Weight
- 77 KB
- Volume
- 149A
- Category
- Article
- ISSN
- 1552-4825
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Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizo
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We present a patient and his maternal uncle who have a subaortic ventricular septal defect and aortic root dilation. They both have physical anomalies, characteristic behaviors, and cognitive disabilities that are consistent with the diagnosis of Lujan-Fryns syndrome (LFS). Although there have been