PMID- 15587291
OWN - NLM
STAT- MEDLINE
DCOM- 20050328
LR  - 20061115
IS  - 0034-8376 (Print)
IS  - 0034-8376 (Linking)
VI  - 56
IP  - 4
DP  - 2004 Jul-Aug
TI  - [Sensitivity and specificity of endoscopy for the detection of velocardiofacial 
      syndrome].
PG  - 454-9
AB  - INTRODUCTION: Velo-cardio-facial syndrome (VCFS) (also known as DiGeorge 
      sequence, and 22q11.2 deletion syndrome among other labels) is now recognized as 
      the most common syndrome associated with cleft palate and velopharyngeal 
      insufficiency. 22q11.2 deletion syndrome has been associated with medially 
      positioned internal carotid arteries. This anomaly may be associated with 
      posterior pharyngeal pulsations seen on endoscopy. The purpose of this paper is 
      to study the diagnostic efficacy of the endoscopy for the detection of patients 
      with 22q11.2 deletion syndrome, using as gold standard test the fluorescence in 
      situ hybridization (FISH) test. MATERIAL AND METHODS: Twenty nine patients with 
      submucous cleft palate, velopharyngeal insufficiency, and 22q11.2 deletion as 
      demonstrated by FISH were studied. Also, 29 patients with submucous cleft palate, 
      and without abnormalities in the FISH procedure, were studied as controls. All 
      patients from both groups underwent endoscopy. A double-blind procedure was 
      utilized whereby all videonasopharyngoscopies were independently revised by the 
      two examiners. RESULTS: Twenty five patients with VCFS demonstrated posterior 
      pharyngeal pulsations seen on endoscopy (sensitivity of 86%). In contrast, none 
      of the patients from the control group showed posterior pulsations (specificity 
      of 100%). Positive predictive value was 100%, and negative predictive value was 
      87%. CONCLUSIONS: Endoscopy seems to be a safe and reliable procedure for 
      evaluating patients with 22q11.2 deletion syndrome. The observations of posterior 
      pharyngeal wall pulsations on endoscopy should alert clinicians to the diagnosis 
      of 22q11.2 deletion, and also, can be useful for preventing the risk of damage to 
      the carotid arteries during velopharyngeal surgery. This indicates another 
      important role of endoscopy in the preoperative assessment of children for 
      palatopharyngoplasty.
FAU - Ysunza, Antonio
AU  - Ysunza A
AD  - Clinica de Fisuras Palatinas. Hospital Manuel Gea Gonzalez, Mexico, DF. 
      amysunza@terra.com.mx
FAU - Pamplona, Maricarmen
AU  - Pamplona M
FAU - Silva-Rojas, Andres
AU  - Silva-Rojas A
FAU - Mazon, Juan Jose
AU  - Mazon JJ
FAU - Ramirez, Elena
AU  - Ramirez E
FAU - Canun, Sonia
AU  - Canun S
FAU - Sierra, Maria del Carmen
AU  - Sierra Mdel C
FAU - Cervantes, Alicia
AU  - Cervantes A
LA  - spa
PT  - English Abstract
PT  - Journal Article
TT  - Sensibilidad y especificidad de la endoscopia para la deteccion del sindrome 
      velocardiofacial.
PL  - Mexico
TA  - Rev Invest Clin
JT  - Revista de investigacion clinica; organo del Hospital de Enfermedades de la 
      Nutricion
JID - 9421552
SB  - IM
MH  - Abnormalities, Multiple/*diagnosis
MH  - Child
MH  - Child, Preschool
MH  - Cleft Palate/*diagnosis
MH  - *Endoscopy
MH  - Face/*abnormalities
MH  - Female
MH  - Heart Defects, Congenital/*diagnosis
MH  - Humans
MH  - Jaw Abnormalities/*diagnosis
MH  - Male
MH  - Sensitivity and Specificity
MH  - Syndrome
EDAT- 2004/12/14 09:00
MHDA- 2005/03/29 09:00
CRDT- 2004/12/14 09:00
PHST- 2004/12/14 09:00 [pubmed]
PHST- 2005/03/29 09:00 [medline]
PHST- 2004/12/14 09:00 [entrez]
PST - ppublish
SO  - Rev Invest Clin. 2004 Jul-Aug;56(4):454-9.