Association of Anterior Glottic Webs with Velocardiofacial Syndrome (Chromosome 22q11.2 Deletion)

Abstract

OBJECTIVE: An association between anterior glottic webs and velocardiofacial syndrome (chromosome 22q11.2 deletion) has previously been noted in a number of case reports. Our objective was to determine if the presence of such webs warrants a high index of suspicion for this chromosome deletion.

STUDY DESIGN AND SETTING: This study was carried out in the Division of Pediatric Otolaryngology-Head and Neck Surgery at Cincinnati Children's Hospital Medical Center. Chromosome 22q11.2 deletion status was determined for all patients endoscopically diagnosed with anterior glottic webs between July 1998 and December 2000. Families of patients who tested positive for the deletion were referred to the Cincinnati Children's Division of Human Genetics for additional evaluation and counseling.

RESULTS: Eleven of 17 patients (65%) with anterior glottic webs were positive for chromosome 22q11.2 deletion. Of these 11 patients, 5 showed subtle clinical manifestations of velocardiofacial syndrome and underwent genetic testing due only to the presence of a web. All 11 patients were diagnosed with velocardiofacial syndrome.

CONCLUSION: We strongly recommend that all patients diagnosed with anterior glottic webs undergo fluorescence in situ hybridization evaluation for this chromosome deletion. (Otolaryngol Head Neck Surg 2004;130:415-7.)

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References

Carlson

Sirotkin

Pandita

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet 1997;61:620–9.

Vantrappen

Rommel

Cremers

The velo-cardio-facial syndrome: The otorhinolaryngeal manifestations and implications. Int J Pediatr Otorhinolaryngol 1998;45:133–41.

Djyce

McDonald-McGinn

Kirschner

Otolaryngologic manifestations of the 22q11.2 deletion syndrome. Arch Otolaryngol Head Neck Surg 2002;128:1409–12.

Shprintzen

Goldberg

Lewin

A new syndrome involving cleft palate cardiac anomalies, typical facies, and learning disabilities: Velo-cardio-facial syndrome. Cleft Palate J 1978;15:56–62.

Thomas

Graham

Jr.

Chromosome 22q11 deletion syndrome: An update and Review for the primary pediatrician. Clin Pediatr 1997;36:253–66.

Leana-Cox

Pangkanon

Eanet

Familial DiGeorge/velocardiofacial syndrome with deletions of chromosome area 22q11.2: Report of five families with a Review of the literature. Am J Med Genet 1996;65:309–16.

Cuneo

22q11.2 deletion syndrome: DiGeorge, velocardiofacial, and conotruncal anomaly face syndromes. Curr Opin Pediatr 2001;13:465–72.

Driscoll

Budarf

Emanuel

A genetic etiology for DiGeorge syndrome: Consistent deletions and microdeletions of 22q11. Am J Hum Genet 1992;50:924–33.

Burn

Takao

Wilson

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22. J Med Genet 1993;30:822–4.

10.

Emanual

McDonald-McGinn

Saitta

The 22q11.2 deletion syndrome. Adv Pediatri 2001;48:39–73.

11.

McDonald-McGinn

Tonnesen

Laufer-Cahana

Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net

Genet Med 2001;3:23–9.

12.

Ravnan

Chen

Golabi

Chromosome 22q11.2 microdeletions in velocardiofacial syndrome patients with widely variable manifestations. Am J Med Genet 1996;66:250–6.

13.

Fokstuen

Bottani

Medeiros

Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients. Am J Med Genet 1997;70:130–3.

14.

Stoler

Ladoulis

Holmes

Anterior laryngeal webs and 22q11 deletions. Am J Med Genet 1998;79:152

15.

Marble

Morava

Tsien

Subglottic web in a mother and son with 22q11.2 deletion. Am J Med Genet 1998;75:537

16.

Rosias

Sijstermans

Theunissen

Phenotypic variability of the cat eye syndrome. Case report and Review of the literature. Genet Couns 2001;12:273–82.

17.

Bofinger

Soukup

Cat eye syndrome. Partial trisomy 22 due to translocation in the mother. Am J Dis Child 1977;131:893–7.

18.

McElhinney

Jacobs

McDonald-McGinn

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web. Int J Pediatr Otorhinolaryngol 2002;66:23–7.