PMID- 19860531
OWN - NLM
STAT- MEDLINE
DCOM- 20101223
LR  - 20220331
IS  - 1545-1569 (Electronic)
IS  - 1055-6656 (Linking)
VI  - 47
IP  - 3
DP  - 2010 May
TI  - A case of congenitally absent left internal carotid artery: vascular 
      malformations in 22q11.2 deletion syndrome.
PG  - 314-7
AB  - Our report is on a Hispanic boy for whom, shortly after birth, clinical suspicion 
      of 22q11.2 deletion syndrome (22q11.2DS) was raised as a result of his 
      characteristic features, including facial dysmorphisms and hypotonia. The 
      22q11.2DS was confirmed by fluorescence in situ hybridization (FISH), noting a 
      22q11.2 deletion. Further evaluation revealed complete congenital absence of the 
      left internal carotid artery and focal pachygyria of the left hemisphere. 
      Multiple cardiac and vascular anomalies have been previously described in 22q11 
      deletion syndrome, but congenital absence of the internal carotid has not been 
      previously reported in the literature. We present a clinical case report in 
      detail of this unique 22q11.2 deletion syndrome associated finding.
FAU - Johnson, Matthew D
AU  - Johnson MD
AD  - Division of Otolaryngology-Head and Neck Surgery, University of Wisconsin School 
      of Medicine and Public Health, Madison, Wisconsin, USA. mjohnson@uwhealth.org
FAU - Gentry, Lindell R
AU  - Gentry LR
FAU - Rice, Gregory M
AU  - Rice GM
FAU - Mount, Delora L
AU  - Mount DL
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Cleft Palate Craniofac J
JT  - The Cleft palate-craniofacial journal : official publication of the American 
      Cleft Palate-Craniofacial Association
JID - 9102566
SB  - IM
MH  - Abnormalities, Multiple/genetics
MH  - Carotid Artery, Internal/*abnormalities
MH  - *Chromosomes, Human, Pair 22
MH  - DiGeorge Syndrome/*diagnosis/genetics
MH  - Diagnosis, Differential
MH  - Gene Deletion
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Male
EDAT- 2009/10/29 06:00
MHDA- 2010/12/25 06:00
CRDT- 2009/10/29 06:00
PHST- 2009/10/29 06:00 [entrez]
PHST- 2009/10/29 06:00 [pubmed]
PHST- 2010/12/25 06:00 [medline]
AID - 09-061 [pii]
AID - 10.1597/09-061.1 [doi]
PST - ppublish
SO  - Cleft Palate Craniofac J. 2010 May;47(3):314-7. doi: 10.1597/09-061.1.