Publication: Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients
Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients
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Fokstuen, S., Bottani, A., Medeiros, P. F. V., Antonarakis, S. E., Stoll, C., & Schinzel, A. (1997). Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients. American Journal of Medical Genetics, 70, 130–133. https://doi.org/10.1002/(SICI)1096-8628(19970516)70:2<130::AID-AJMG5>3.0.CO;2-1
Abstract
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The clinical manifestations of patients with a 22q11.2 deletion are highly variable and mainly include developmental defects of structures derived from the third and fourth pharyngeal pouches. Laryngeal atresia has occasionally been reported in DiGeorge syndrome as well as in velo-cardio-facial syndrome. We observed three patients with type III laryngeal atresia (glottic web) and 22q11.2 microdeletion. One patient showed a “classical” 22q11.2 deletion phenotype with clinical overlap with DiGeorge and velo-cardio-facial syndromes. Howe
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- Fokstuen, Siv
- Bottani, Armand
- Medeiros, Paula F V
- Antonarakis, Stylianos E
- Stoll, Claude
- Schinzel, Albert
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Citations
Fokstuen, S., Bottani, A., Medeiros, P. F. V., Antonarakis, S. E., Stoll, C., & Schinzel, A. (1997). Laryngeal atresia type III (glottic web) with 22q11.2 microdeletion: Report of three patients. American Journal of Medical Genetics, 70, 130–133. https://doi.org/10.1002/(SICI)1096-8628(19970516)70:2<130::AID-AJMG5>3.0.CO;2-1
