Apparent G syndrome presenting as neck and upper limb dystonia and severe gastroesophageal reflux

Am J Med Genet. 1987 Oct;28(2):297-302. doi: 10.1002/ajmg.1320280206.


We have studied a 3-month-old boy with severe gastroesophageal reflux, feeding difficulties, neck and upper limb dystonia, abnormal ears, normal genitalia, and anatomically apparently normal larynx and trachea. Initially diagnosed as suffering from Sandifer "syndrome," he was treated with a gastrostomy and Nissen fundoplication. However, his characteristic facial appearance subsequently led to the diagnosis of G syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Acute Disease
  • Bone Diseases, Developmental / genetics*
  • Deglutition Disorders / genetics*
  • Dystonia / genetics*
  • Dystonia / surgery
  • Gastroesophageal Reflux / diagnostic imaging
  • Gastroesophageal Reflux / genetics*
  • Gastroesophageal Reflux / surgery
  • Humans
  • Hypertelorism / genetics*
  • Incest
  • Infant
  • Male
  • Radiography
  • Syndrome