Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel–Chen–Johnson syndrome)

Abstract

Spondylospinal thoracic dysostosis can be considered a type of spondylocostal dysostosis because of the occurrence of vertebral defects (hemivertebrae and vertebral body fusion) and thoracic anomalies (short thorax and pulmonary hypoplasia). This syndrome was described by Johnson et al. (1997) in two siblings with dwarfism, short thorax, curved spine, fusion of the vertebrae and spinal process, multiple pterygium, and arthrogryposis. We describe the case of a 16-year-old Mexican girl with the longest survival recorded (the previous oldest patient was 7 years old) and analyze the natural history and describe some new features of this rare entity.

Case report: Exome sequencing revealed disease-causing variants in a patient with spondylospinal thoracic dysostosis

“…Johnson et al termed this association SSTD stressing the fusion of the spinal processes and the resulted hyperlordosis ( 10 ). Becerra-Solano et al named this particular entity the Turkel–Chen–Johnson syndrome after the first three authors who described the association of an SCD phenotype with extended fusion of the spinal processes, multiple pterygia, and arthrogryposis ( 23 ). To the best of our knowledge, only seven cases of SSTD have been reported previously ( 10 , 23 , 24 ).…”

“…Becerra-Solano et al named this particular entity the Turkel–Chen–Johnson syndrome after the first three authors who described the association of an SCD phenotype with extended fusion of the spinal processes, multiple pterygia, and arthrogryposis ( 23 ). To the best of our knowledge, only seven cases of SSTD have been reported previously ( 10 , 23 , 24 ). Table 2 compares the clinical and radiological manifestation found in SCD SSTD, and our patient.…”

“…This was also the case in our patient. However, Becerra-Solano et al reported the case of a healthy 16-year-old Mexican girl, who goes to school without respiratory failure ( 23 ). As no genetic diagnosis for this association was known, the authors suggested to perform WES to sort out SSTD from SCD which gives very similar vertebral segmentation defects and rib anomalies.…”