Thanatophoric Dysplasia Differential Diagnoses

Updated: Feb 09, 2023
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Luis O Rohena, MD, PhD, 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