HOMEPRODUCTSCOMPANYCONTACTFAQResearchDictionaryPharmaSign Up FREE or Login

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.
AuthorsLuis E Becerra-Solano, Liliana Chacon, Dinorah Morales-Mata, Maria de Lourdes Ramírez-Dueñas, José E García-Ortiz
JournalClinical dysmorphology (Clin Dysmorphol) Vol. 24 Issue 1 Pg. 1-6 (Jan 2015) ISSN: 1473-5717 [Electronic] England
PMID25304117 (Publication Type: Case Reports, Journal Article)
Topics
  • Adolescent
  • Contracture (diagnostic imaging, pathology)
  • Dysostoses (diagnostic imaging, pathology)
  • Family
  • Female
  • Humans
  • Osteochondrodysplasias (diagnostic imaging, pathology)
  • Phenotype
  • Radiography
  • Ribs (abnormalities, diagnostic imaging, pathology)
  • Spine (abnormalities, diagnostic imaging, pathology)

Join CureHunter, for free Research Interface BASIC access!

Take advantage of free CureHunter research engine access to explore the best drug and treatment options for any disease. Find out why thousands of doctors, pharma researchers and patient activists around the world use CureHunter every day.
Realize the full power of the drug-disease research graph!


Choose Username:
Email:
Password:
Verify Password:
Enter Code Shown: