Colo Dino, Kruyt Mayo C, Timmers-Raaijmaakers Brigitte C M S, Castelein René M
Universitair Medisch Centrum, Afd. Orthopedie, Utrecht, the Netherlands.
Ned Tijdschr Geneeskd. 2012;156(4):A4298.
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.
22q11.2染色体缺失综合征（22q11DS）是一个用于描述由多种临床表型组成的综合征的术语，例如迪乔治综合征、腭心面综合征和圆锥动脉干异常面容综合征。这些表型有一个共同的病因，即22号染色体的一部分缺失。这种疾病的一个重要临床表现是脊柱侧弯，据估计在15%至50%的患者中会出现。我们介绍三例在幼儿期发现脊柱侧弯的儿童病例。两名儿童因畸形进展接受了手术治疗；第三名儿童的手术被尽可能推迟，以利于其进一步生长。我们建议对每一位22q11DS患者进行脊柱侧弯筛查。此外，对于所有合并明显表型特征的脊柱侧弯病例，都需要进行遗传咨询。
