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

Abstract

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.

• Authors: C A Williams, J L Frias
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 28 Issue 2 Pg. 297-302 (Oct 1987) ISSN: 0148-7299 [Print] United States
• PMID: 3425612 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Topics

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