Scoliose bij kinderen met het 22q11.2-deletiesyndroom

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.