PMID- 22019154
OWN - NLM
STAT- MEDLINE
DCOM- 20120516
LR  - 20120113
IS  - 1872-8464 (Electronic)
IS  - 0165-5876 (Linking)
VI  - 76
IP  - 1
DP  - 2012 Jan
TI  - Laryngeal abnormalities are frequent in the 22q11 deletion syndrome.
PG  - 36-40
LID - 10.1016/j.ijporl.2011.09.025 [doi]
AB  - OBJECTIVES: The 22q11 microdeletion is a chromosomal disorder detected by 
      fluorescence in situ hybridization (FISH). It has been known since the 80s, and 
      is involved in many malformative syndromes (DiGeorge sequence, VCFS syndrome, 
      etc.). Airway abnormalities are frequently localized in the larynx, as reported 
      in the following series. METHODS: A retrospective chart review of laryngeal 
      abnormalities and 22q11 deletion in a tertiary referral center. RESULTS: Five 
      cases of laryngeal abnormalities associated to 22q11 deletion syndrome (DS) were 
      found in a series of 35 cases. Abnormalities encountered were subglottic stenosis 
      (3%), glottic web (9%), laryngeal paralysis (9%), vocal nodule (3%), 
      laryngomalacia (3%) associated with bronchial malposition (3%). CONCLUSION: 
      Laryngeal abnormalities are relatively common (14% in this series) and important 
      to recognize with the 22q11 deletion syndrome, especially if cardiac surgery is 
      planed. Conversely, in case of laryngeal abnormalities associated to other 
      malformation (like facial dysmorphia or cardiac malformation), the 22q11 deletion 
      must be searched.
CI  - Copyright (c) 2011 Elsevier Ireland Ltd. All rights reserved.
FAU - Leopold, C
AU  - Leopold C
AD  - Department of Pediatric Otorhinolaryngology and Audiology, Rouen University 
      Hospital, Charles Nicolle, 1 rue de Germont, 76031 Rouen Cedex, France.
FAU - De Barros, A
AU  - De Barros A
FAU - Cellier, C
AU  - Cellier C
FAU - Drouin-Garraud, V
AU  - Drouin-Garraud V
FAU - Dehesdin, D
AU  - Dehesdin D
FAU - Marie, J-P
AU  - Marie JP
LA  - eng
PT  - Journal Article
DEP - 20111021
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
SB  - IM
MH  - 22q11 Deletion Syndrome/*diagnosis/epidemiology/therapy
MH  - Abnormalities, Multiple/diagnosis/epidemiology/therapy
MH  - Child
MH  - Cohort Studies
MH  - Combined Modality Therapy
MH  - Developmental Disabilities/diagnosis/epidemiology/*therapy
MH  - Female
MH  - Follow-Up Studies
MH  - Humans
MH  - Incidence
MH  - Infant, Newborn
MH  - Infant, Premature
MH  - Laryngeal Diseases/*epidemiology/genetics/therapy
MH  - Laryngoscopy/methods
MH  - Larynx/*abnormalities
MH  - Male
MH  - Retrospective Studies
MH  - Severity of Illness Index
EDAT- 2011/10/25 06:00
MHDA- 2012/05/17 06:00
CRDT- 2011/10/25 06:00
PHST- 2011/07/27 00:00 [received]
PHST- 2011/09/22 00:00 [revised]
PHST- 2011/09/24 00:00 [accepted]
PHST- 2011/10/25 06:00 [entrez]
PHST- 2011/10/25 06:00 [pubmed]
PHST- 2012/05/17 06:00 [medline]
AID - S0165-5876(11)00475-7 [pii]
AID - 10.1016/j.ijporl.2011.09.025 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2012 Jan;76(1):36-40. doi: 
      10.1016/j.ijporl.2011.09.025. Epub 2011 Oct 21.