Thursday, 20 November 2025

Adams Oliver Syndrome

 
Notch Pathway Mutations 
 
 
 
 
Adams Oliver Syndrome 
 

Adams–Oliver Syndrome was first described in 1945 by Dr. Forrest H. Adams and Dr. Clarence Paul Oliver, two American physicians.

  • They reported eight family members across three generations with:

    • Congenital scalp defects (aplasia cutis congenita)

    • Terminal transverse limb defects

  • The inheritance pattern suggested autosomal dominant transmission.

  • This original report established AOS as a distinct congenital malformation syndrome.


     
     
     
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