## Abstract We describe a patient with multiple congenital anomalies including tracheobronchomalacia, CTβproven metopic craniosynostosis, glandular hypospadias and severe ventral chordee, torticollis, esotropia, strabismus, fifth finger clinodactyly, hallux valgus, and global developmental delay. U
Molecular characterization of a novel, de novo, cryptic interstitial deletion on 19p13.3 in a child with a cutis aplasia and multiple congenital anomalies
β Scribed by Hussam Al-Kateb; Amanda Hahn; Julie M. Gastier-Foster; Linda Jeng; Shawn E. McCandless; Christine A. Curtis
- Publisher
- John Wiley and Sons
- Year
- 2010
- Tongue
- English
- Weight
- 206 KB
- Volume
- 152A
- Category
- Article
- ISSN
- 1552-4825
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W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di