Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study

  • Éber Emanuel Mayoral Pathological Anatomical Division – Hospital das Clínicas – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
  • Regina Schultz Pathological Anatomical Division – Hospital das Clínicas – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
  • Sérgio Rosemberg Department of Pathology – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
  • Lisa Suzuki Institute of Child – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
  • Luiz Antonio Nunes de Oliveira Institute of Radiology – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
  • Fernando Uliana Kay Institute of Child – Faculdade de Medicina – Universidade de São Paulo, São Paulo/SP
Keywords: Thanatophoric Dysplasia, Tomography, Spiral Computed, Autopsy

Abstract

Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy.

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Published
2014-06-26
How to Cite
Mayoral, Éber, Schultz, R., Rosemberg, S., Suzuki, L., Oliveira, L., & Kay, F. (2014). Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study. Autopsy and Case Reports, 4(2), 35-41. https://doi.org/10.4322/acr.%y.82533
Section
Article / Autopsy Case Report