Thanatophoric Dysplasia Differential Diagnoses

Updated: Sep 07, 2016
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, FAAP, FACMG  more...
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Diagnostic Considerations

Diagnostic considerations include: 

  • Camptomelic dysplasia (CD)
  • Dyssegmental dysplasia, Silverman-Handmaker type (DDSH)
  • Platyspondylic lethal skeletal dysplasia (PLSD)
  • Rhizomelic chondrodysplasia punctata (RCDP)
  • Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN)
  • Short rib-polydactyly syndromes

Differential Diagnoses