The chromosome 22q11.2 deletion syndrome (22q11DS) is the most common human deletion syndrome, with an estimated incidence of 1 in 4000 live births. After the Down syndrome, it is the most frequent syndromal cause of major congenital cardiac disease and developmental delay. Other names that have been used for this syndrome are the DiGeorge syndrome, velocardiofacial syndrome and conotruncal anomaly face syndrome.

This syndrome can affect almost every organ system and many developmental functions. The musculoskeletal system may be severely involved. An important clinical manifestation is a scoliosis, which is estimated to occur in 15-50% of the patients. In this report we present three cases of children with a scoliosis, detected in early childhood.

The first case represents a boy who visited the orthopaedic surgeon with an abnormal shoulder function at an age of 1 year. A diagnosis of a minor variant of Sprengel’s deformity was made. Furthermore, a minimal left convex scoliosis was noted. Because of these abnormalities, combined with a developmental delay, the orthopaedic surgeon consulted a geneticist, who confirmed the diagnosis of 22q11DS. At the age of 14 years, he was referred to our clinic with a right convex thoracic scoliosis of 48° and a left convex lumbar scoliosis of 50°, increasing in three months to resp. 66° and 52°. This child will require a surgical correction and stabilisation, however with the absence of complaints, we are trying to postpone the surgery after the growth spurt.

The second child was diagnosed neonatally with a tetralogy of Fallot, absence of the thymus and a hypocalcaemia. Furthermore, he had a developmental delay, epilepsy, relapsing ear infections, a hypothyreoidia and thrombocytopenia. After the diagnosis of 22q11DS, he presented at the age of 15 years with a pes cavovarus and scoliosis. He was treated for both deformities surgically, and the thoracolumbar left convex scoliosis diminished from 73° to 38°. However, this was not sufficient and he required a more extensive posterior spondylodesis, because of progression of the deformity.

The third girl, diagnosed with 22q11DS short after birth, had a right convex thoracolumbar scoliosis of 40°, detected at the age of 9 years. Because further progression was expected, she was treated with a short anterior spondylodesis. However, this was not enough and she required an extensive posterior spondylodesis, which resulted in a 31° angle. During the past 15 months this angle has not changed.

22q11DS is a multisystem disorder, in which musculoskeletal manifestations can also represent a clinically significant problem. Scoliosis is the most important, estimated to occur in 15-50% of this population. We presented three children with this deformity. Two children were treated surgically because of progression of the scoliosis. The third child awaits surgery as long as possible to allow further growth. It seems that a scoliosis in 22q11DS can be very progressive, requiring extensive surgical correction. Therefore, we advise every patient with 22q11DS to be screened for scoliosis. Furthermore, genetic counselling is required in case of a scoliosis combined with distinct phenotypical characteristics.

This supplementary information is presented as submitted by the corresponding author. It has not been copy-edited by NTvG.