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  • Title: Expanding the phenotype of spondylospinal thoracic dysostosis (the Turkel-Chen-Johnson syndrome).
    Author: Becerra-Solano LE, Chacon L, Morales-Mata D, Ramírez-Dueñas Mde L, García-Ortiz JE.
    Journal: Clin Dysmorphol; 2015 Jan; 24(1):1-6. PubMed ID: 25304117.
    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.
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