On cognitive variability in velocardiofa
β Kozma, Chahira
π Article
π
1998
π John Wiley and Sons
π English
β 6 KB
π 1 views
β¦ LIBER β¦
Gastrointestinal tract anomalies in velocardiofacial syndrome
β Scribed by Enns, Gregory M.; Cox, Victoria A.; Golabi, Mahin; Immken, LaDonna; Fisher, Jamie; Curry, Cynthia
- Publisher
- John Wiley and Sons
- Year
- 1999
- Tongue
- English
- Weight
- 14 KB
- Volume
- 84
- Category
- Article
- ISSN
- 0148-7299
- DOI
- 10.1002/(sici)1096-8628(19990604)84:4<382::aid-ajmg16>3.0.co;2-1
No coin nor oath required. For personal study only.
β¦ Synopsis
Velocardiofacial syndrome (VCFS) is a common condition with complex phenotype. Umbilical hernia and anal stenosis/atresia have been reported; however, gastrointestinal anomalies are uncommon in VCFS [Goldberg et al., 1993;Mitnick et al., 1994;Worthington et al., 1997]. We describe two patients with VCFS, documented on fluorescence in situ hybridization (FISH) analysis to have microdeletions of 22q11.2, with significant gastrointestinal tract anomalies.
Patient 1 was born at term after an uneventful pregnancy via forceps-assisted delivery. She became cyanotic soon after birth and initial evaluation detected complex heart disease (atrioventricular canal defect, tetralogy of Fallot, and aortic arch anomalies), tracheoesophageal fistula with esophageal atresia, cleft T7 vertebra, anteriorly placed anus, and facial anomalies characteristic of VCFS. She had a complicated neonatal course and died. Autopsy confirmed presence of congenital heart anomalies, and absent thymus, tracheoesophageal fistula, and bronchoesophageal fistula connecting the distal esophagus to the left bronchus.
Patient 2 was evaluated shortly after birth and was suspected of having VCFS because of characteristic facial appearance, VSD, and aortic arch abnormalities. He also had Hirschprung disease documented by biopsy and histologic exam. At that time, chromosomes
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