100 top medical experts on Type I Thanatophoric Dysplasia across 12 countries and 4 U.S. states, including 4 MDs (Physicians). This is based on an objective analysis of their Scientific Publications, Clinical Trials, Medicare, and NIH Grants.

  1. Type I Thanatophoric Dysplasia: A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
  2. Clinical guidelines are the recommended starting point to understand initial steps and current protocols in any disease or procedure:
  3. Synonyms: San Diego Type Lethal Short-Limbed Platyspondylic Dwarfism,  San Diego Type Platyspondylic Lethal Skeletal Dysplasia


  

        

                    


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