Document Detail

Scoliosis in velo-cardio-facial syndrome.
MedLine Citation:
PMID:  12409907     Owner:  NLM     Status:  MEDLINE    
Velo-cardio-facial (VCF) syndrome caused by 22q11.2 deletion is a common genetic condition with variable features including congenital heart defects, facial anomalies, palatal anomalies, and cognitive problems. Besides the main characteristics, various other anomalies have been noted, including musculoskeletal problems. Scoliosis has been mentioned but not emphasized as a common feature. The authors evaluated 20 patients for scoliosis and connective tissue anomalies who were consecutively diagnosed with VCF syndrome and 22q11.2 deletion at their clinics. The authors describe three children with VCF syndrome who had significant scoliosis and connective tissue findings. Two of these patients were initially referred to genetics for possible Marfan syndrome. The authors suggest that scoliosis should be considered a relatively common finding in patients with 22q11.2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay.
Eva Morava; Yves Lacassie; Andrew King; Tamas Illes; Michael Marble
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric orthopedics     Volume:  22     ISSN:  0271-6798     ISO Abbreviation:  J Pediatr Orthop     Publication Date:    2002 Nov-Dec
Date Detail:
Created Date:  2002-10-31     Completed Date:  2003-03-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8109053     Medline TA:  J Pediatr Orthop     Country:  United States    
Other Details:
Languages:  eng     Pagination:  780-3     Citation Subset:  IM    
Children's Hospital, New Orleans, Louisiana 70118, USA.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics*
Chromosome Deletion
Chromosome Mapping
Chromosomes, Human, Pair 22
Cleft Palate / genetics
Developmental Disabilities / diagnosis,  genetics
Diagnosis, Differential
Heart Defects, Congenital / diagnosis,  genetics
Retrospective Studies
Scoliosis / diagnosis,  genetics*,  therapy

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