Spondylocostal Dysostosis: A Literature Review and Case Report with Long-Term Follow-Up of a Conservatively Managed Patient

Abstract

Introduction Patients with spondylocostal dysostosis (SCD) have congenital spine and rib deformities associated with frequently severe thoracic insufficiency and respiratory compromise. The literature is largely composed of case reports and small cohorts, and there is little information regarding adults with this condition. In this report, we describe the natural history of a conservatively treated patient and include quality-of-life issues such as childbearing, athletic participation, and occupational selection. Case Presentation We present a patient with SCD who was conservatively treated by a single physician from birth for 31 years. Our patient was capable of a reasonably good quality of life through adulthood, including participation in gymnastics and employment. At age 18, she became pregnant and subsequently terminated the pregnancy due to obstetrical concerns for compromised respiration. She has had intermittent respiratory complaints and occasionally experiences dyspnea with exertion, but this only has limited her during certain activities in the past three years. Currently, she takes naproxen for chronic back pain with periodic exacerbations. Discussion Other cases in the literature have described adult SCD patients who have received nonoperative treatment and achieved a wide range of functional outcomes. This provides some limited evidence to suggest that select patients with SCD may be treated conservatively and achieve a reasonable quality of life. However, close clinical follow-up with these patients is recommended, particularly early on, considering the high rates of infant morbidity and mortality. Chest physiotherapy and early pulmonary care have been associated with favorable outcomes in infancy. Surgery to increase thoracic volume and correct scoliosis has been shown in some cases to improve respiratory function. Treatment depends on the degree of thoracic insufficiency and quality of life. The natural history of SCD remains largely unknown, but some patients are capable of relatively favorable life spans, employment, and participation in athletics.

Spondylocostal Dysplasia in a 7-Year-Old Sri Lankan Girl Causing Restrictive Lung Disease: A Case Report and Review of the Literature

“…Short-trunk skeletal dysplasia comprises a spectrum of diseases that uses various nomenclatures in the literature [ 1 , 2 ]. Spondylocostal dysplasia (SCD), spondylothoracic dysplasia (STD), and Jarcho–Levin syndrome (JLS) had been described in close association.…”

“…Expression of the clinical phenotype is reported to be varied within the same family; nonetheless, in this case, there were no other affected family members. In severe phenotypes, thoracic insufficiency syndrome causes respiratory failure which is the commonest cause of death during infancy [ 1 ]. Recurrent respiratory tract infections have been reported in older children and adults [ 2 ].…”

“…This child did not have respiratory symptoms yet, although she was found to have moderate to severe restrictive lung disease on spirometry. Southam et al reported a 31-year-old lady who was managed by a single physician since birth and sustained a near-normal life and employment and enjoyed gymnastics [ 1 ]. However, she experienced respiratory difficulties when she became pregnant at 18 years and required termination of pregnancy.…”

“…Spondylocostal dysplasia (SCD) is a rare heritable genetic disorder characterised by malformations of the axial skeleton resulting in vertebral and rib abnormalities [ 1 , 2 ]. Short stature, scoliosis, and small thoracic cavity are key clinical features.…”

“…Affected individuals sustain a varying degree of morbidity due to the expressed phenotype [ 2 , 5 ]. Severely affected children might die in early infancy due to thoracic insufficiency syndrome, whilst others could survive well into adulthood [ 1 , 2 ]. Progressive restrictive lung disease is observed in the survivors due to the inherent features of small thoracic cavity and scoliosis.…”