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- W2085673753 abstract "Sir. —In the article Hereditary Stiff-Baby Syndrome (Journal1981; 135:909-911), Lingam et al described a family with an autosomal dominant disorder characterized by infantile stiffening and an abnormal startle response. Lingam and colleagues seem to have reported a previously described condition known as hyperexplexia or Kok's disease. 1,2 In hyperexplexia, as in the family described by Lingam and associates, hypertonia in the affected neonate leads to hypokinesis and a fetal position. The hypertonia lessens or disappears during sleep and with holding of the infant, and it completely disappears by 2 years of age. Sitting, walking, and other gross motor milestones are delayed because of the hypertonia. In addition, affected persons during infancy and throughout life have an exaggerated startle reaction that occasionally may produce a generalized hypertonic response and falling. These persons, while falling, have no loss of consciousness nor do they make any attempt to protect themselves from the" @default.
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- W2085673753 date "1982-06-01" @default.
- W2085673753 modified "2023-09-27" @default.
- W2085673753 title "Hyperexplexia: Not Hereditary Stiff-Baby Syndrome" @default.
- W2085673753 cites W1544074745 @default.
- W2085673753 cites W1599267686 @default.
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- W2085673753 doi "https://doi.org/10.1001/archpedi.1982.03970420086029" @default.
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