The present case illustrates a number of characteristic features associated with T8mS that have been previously reported in the literature. In addition to the patient's classic features of trisomy 8 (ie, furrows in the palms and feet, elongated facial features, low-set and abnormally shaped ears, strabismus, developmental delays, and mental retardation), the patient also had a marfanoid habitus body type.
In a previously documented case of T8mS with similar body type, the individual was treated for Marfan syndrome until age 15 years.
11 Physicians should consider T8mS in the differential diagnosis of individuals with mental retardation and tall stature—especially when there is also evidence of such skeletal abnormalities as joint contractures and scoliosis.
In addition to having these abnormalities, the patient in the present case was diagnosed as having a herniated disk at L3-L4 and cauda equina syndrome. Because of the extreme phenotypic variability associated with mosaic genetic disorders and the rarity of individuals with trisomy 8 surviving beyond fetal development,
1 little clinical information is known about T8mS and the associations of this syndrome with other medical conditions, such as lumbar spine herniations. The present case appears to illustrate that patients with T8mS may be at increased risk of herniated disks.
Our literature review revealed many documented cases of vertebral anomalies in individuals with trisomy 8. Approximately 71% of patients with T8mS are estimated to have some form of vertebral anomaly.
4 Therefore, vertebral anomalies could increase patient risk of herniated disks. Nevertheless, further research is needed to establish a firm association between T8mS and herniated disks.
Certain aspects of T8mS are particularly relevant to osteopathic medicine. The majority of patients with T8mS have musculoskeletal complaints. Thus, osteopathic manipulative treatment can play an important role in the treatment plan for these patients. In addition, many patients with T8mS require a number of surgeries, and osteopathic manipulative treatment can be used to expedite their recovery and rehabilitation.