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

1 October 1987

journal article
research article
Published by Wiley in American Journal of Medical Genetics

Vol. 28 (2) , 297-302
https://doi.org/10.1002/ajmg.1320280206

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.

Keywords

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