This Article  • Full text  • PDF  • Reply to article  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Citing articles on HighWire  • Citing articles on Web of Science (6)  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • General Rhinology  • Middle/ External Ear Disorders  • Paranasal Sinus Disease  • Gastrointestinal Diseases  • Alert me on articles by topic  Social Bookmarking   What's this?

Orville Dyce, MD; Donna McDonald-McGinn, MS; Richard E. Kirschner, MD; Elaine Zackai, MD; Kathleen Young, BSE; Ian N. Jacobs, MD

Arch Otolaryngol Head Neck Surg. 2002;128:1408-1412.

Background  The 22q11.2 chromosome deletion syndrome occurs at a frequency of 1 in 4000 live births. Fluorescent in situ hybridization is a reliable means of testing for this genetic abnormality.

Objective  To describe the otolaryngologic manifestations of the 22q11.2 deletion syndrome to improve recognition and management of these disorders.

Patients and Design  A retrospective medical record review of 102 patients with chromosome 22q 11.2 deletions confirmed by fluorescent in situ hybridization.

Setting  A multidisciplinary 22q11.2 deletion clinic at an academic children's hospital.

Outcome Measure  All otolaryngologic problems were recorded, including facial dysmorphic features, velopharyngeal insufficiency, speech and airway abnormalities, feeding difficulties, gastroesophageal reflux, hearing loss, otitis media, sinus problems, and vascular anomalies. Additionally, available objective test results were recorded, including those from audiograms, imaging studies, endoscopies, speech evaluations, and vascular studies.

Results  Dysmorphic facial features were found in most patients. Velopharyngeal incompetence was noted in 76 patients, while overt submucosal clefts were found in 11 patients. Most patients had speech and language delays. In addition, 53 patients had chronic or recurrent otitis media, and 28 had recurrent sinorhinitis. Furthermore, feeding problems were found in 48 patients, while vascular anomalies of the head and neck were found in 16 patients.

Conclusion  Otolaryngologic abnormalities are relatively common and important to recognize with the 22q11.2 deletion syndrome.

From the Division of Pediatric Otolaryngology (Drs Dyce and Jacobs) and Genetics (Mss McDonald-McGinn and Young and Drs Kirschner and Zackai), The Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?

THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES

Velopharyngoplasty for Noncleft Velopharyngeal Insufficiency: Results in Relation to 22q11 Microdeletion
Rouillon et al.
Arch Otolaryngol Head Neck Surg 2009;135:652-656.
ABSTRACT | FULL TEXT  

CHARGE (Coloboma, Heart Defect, Atresia Choanae, Retarded Growth and Development, Genital Hypoplasia, Ear Anomalies/Deafness) Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Nonimmunologic Phenotypic Features
Jyonouchi et al.
Pediatrics 2009;123:e871-e877.
ABSTRACT | FULL TEXT