Gene/Protein
Disease
Symptom
Drug
Enzyme
Compound
Pivot Concepts:
Gene/Protein
Disease
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Drug
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Target Concepts:
Gene/Protein
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Query: UMLS:C0700208 (
scoliosis
)
8,574
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Chromosome 22q11.2 deletion syndrome (22q11DS) is a term used to describe a syndrome that consists of several clinical phenotypes, for example the DiGeorge syndrome, velocardiofacial syndrome and
conotruncal anomaly face syndrome
. These phenotypes share a common cause, i.e. deletion of a part of chromosome 22. An important clinical manifestation of this condition is
scoliosis
, which is estimated to occur in 15-50% of patients. We present three cases of children with
scoliosis
detected in early childhood. Two children were treated surgically because of progression of the deformity; in the third child surgery is being postponed as long as possible to allow further growth. We advise that every patient with 22q11DS should be screened for
scoliosis
. Furthermore, genetic counselling is required in all cases of
scoliosis
combined with distinct phenotypical characteristics.
...
PMID:[Scoliosis in children with chromosome 22q11.2 deletion syndrome]. 2227 37
