PMID- 12880672
OWN - NLM
STAT- MEDLINE
DCOM- 20031209
LR  - 20190906
IS  - 0165-5876 (Print)
IS  - 0165-5876 (Linking)
VI  - 67
IP  - 8
DP  - 2003 Aug
TI  - Videonasopharyngoscopy in patients with 22q11.2 deletion syndrome (Shprintzen 
      syndrome).
PG  - 911-5
AB  - INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge 
      sequence, conotruncal anomaly face syndrome, 22q11.2 deletion syndrome among 
      other labels) is now recognized as the most common syndrome associated with cleft 
      palate and velopharyngeal insufficiency. VCFS has been associated with medially 
      positioned internal carotid arteries. This anomaly has been associated with 
      obvious posterior pharyngeal pulsations seen on videonasopharyngoscopy. The 
      purpose of this paper is to study the role of videonasopharyngoscopy for the 
      evaluation of patients with VCFS and submucous cleft palate. MATERIALS AND 
      METHODS: Twenty patients with submucous cleft palate, velopharyngeal 
      insufficiency, and 22q11.2 deletion as demonstrated by fluorescence in situ 
      hybridization (FISH) were studied. Also, 20 patients with submucous cleft palate, 
      and without abnormalities in the FISH procedure, were studied as controls. All 
      patients from both groups underwent videonasopharyngoscopy. A double-blind 
      procedure was utilized whereby all videonasopharyngoscopies were independently 
      revised by the two examiners. RESULTS: Both examiners coincided that 17 patients 
      with VCFS demonstrated obvious posterior pharyngeal pulsations seen on 
      videonasopharyngoscopy. In contrast, both examiners agreed that none of the 
      patients from the control group showed posterior pharyngeal pulsations. 
      CONCLUSIONS: Videonasopharyngoscopy seems to be a safe and reliable procedure for 
      evaluating patients with VCFS. The observations of posterior pharyngeal wall 
      pulsations on videonasopharyngoscopy should alert clinicians to the diagnosis of 
      VCFS. Also, the findings of videonasopharyngoscopy can be useful for preventing 
      the risk of damage to the carotid arteries during velopharyngeal surgery. This 
      indicates another important role of videonasopharyngoscopy in the preoperative 
      assessment of children for palatopharyngoplasty.
FAU - Ysunza, Antonio
AU  - Ysunza A
AD  - Cleft Palate Clinic, Hospital Gea Gonzalez, 4800 Calzada Tlalpan, Mexico City, 
      D.F. 14000, Mexico. amysunza@terra.com.mx
FAU - Pamplona, M C
AU  - Pamplona MC
FAU - Ramirez, Elena
AU  - Ramirez E
FAU - Canun, Sonia
AU  - Canun S
FAU - Sierra, M C
AU  - Sierra MC
FAU - Silva-Rojas, Andres
AU  - Silva-Rojas A
LA  - eng
PT  - Journal Article
PL  - Ireland
TA  - Int J Pediatr Otorhinolaryngol
JT  - International journal of pediatric otorhinolaryngology
JID - 8003603
SB  - IM
MH  - Child
MH  - Child, Preschool
MH  - *Chromosome Deletion
MH  - Chromosomes, Human, Pair 22/*genetics
MH  - Cleft Lip/genetics
MH  - Cleft Palate/genetics
MH  - Craniofacial Abnormalities/genetics
MH  - DiGeorge Syndrome/*complications/*diagnosis
MH  - *Endoscopy/methods
MH  - Female
MH  - Heart Defects, Congenital/genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Male
MH  - Nasopharynx/*surgery
MH  - Velopharyngeal Insufficiency/genetics
MH  - Videotape Recording
EDAT- 2003/07/26 05:00
MHDA- 2003/12/11 05:00
CRDT- 2003/07/26 05:00
PHST- 2003/07/26 05:00 [pubmed]
PHST- 2003/12/11 05:00 [medline]
PHST- 2003/07/26 05:00 [entrez]
AID - S0165587603001575 [pii]
AID - 10.1016/s0165-5876(03)00157-5 [doi]
PST - ppublish
SO  - Int J Pediatr Otorhinolaryngol. 2003 Aug;67(8):911-5. doi: 
      10.1016/s0165-5876(03)00157-5.