Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome


Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome


Sommer A


American Journal of Medical Genetics




Child; Humans; Adult; Adolescent; Infant; Posture; De Lange Syndrome/complications; Esophagitis/complications/prevention & control; Gastroesophageal Reflux/complications; Spasm/complications; Torticollis/complications; NET Files; child; adult; De Lange Syndrome/co [Complications]; Gastroesophageal Reflux/co [Complications]; Torticollis/co [Complications]; Esophagitis/co [Complications]; Esophagitis/pc [Prevention & Control]; Spasm/co [Complications]; feeding difficulties; De Lange syndrome; trajectory; characteristics; gastroesophageal reflux; GERD; Sandifer complex


Gastroesophageal reflux is a common occurrence in infancy. The most severe complications of reflux include torticollis, opisthotonus, and paroxysmal dystonic posture (known as the Sandifer complex). We examined 17 patients now ranging in age from 9 months to 19 years (mean age 11 years) with the Brachmann-de Lange syndrome for evidence of gastroesophageal reflux and found that 13 had not only reflux, but also posturing and behavior consistent with the Sandifer complex. We propose that early recognition of gastroesophageal reflux in these patients may prevent the full picture of the Sandifer complex and allow for medical treatment rather than surgical intervention.


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Sommer A, “Occurrence of the Sandifer complex in the Brachmann-de Lange syndrome,” Pediatric Palliative Care Library, accessed June 18, 2024, https://pedpalascnetlibrary.omeka.net/items/show/16810.