Mental deterioration, muscle weakness, clubbing, joint hypermobility, scoliosis, abnormal facies, genitourinary tract abnormalities, and bone deformities. Onset occurs in early infancy; gene defect is in ribosomal S6 kinase2 (Xp22.3-p22.1).
InsideSurgery Medical Information Blog
Details of surgical procedures, pathophysiology, signs and symptoms, and treatment of medical diseases,medical and surgical eponyms, and surgeons and surgery in the news