A survey was conducted among members of the support group MAGIC, which includes individuals with Russell-Silver Syndrome (RSS) and their families. Completed surveys were returned from 135 individuals. Of those, 65 were determined to have clear-cut RSS on the basis of the criteria of: small for gestational age (IUGR), small for age during childhood, and having preservation of head circumference. Asymmetry is often seen in RSS as well. To be included in the study, it was necessary for the subjects to have at least three of four findings.  If they had only three distinctive minor clinical features, other features were sought, including hypospadias, clinodactyly, triangular face and hypoglycemia to confirm the affected individual as a “clear cut” case.

 

In carefully reviewing these “typical” RSS cases, a surprisingly high frequency of gastrointestinal (GI) symptoms were found. Among the many areas of complications surveyed, GI problems stood out.  Out of 65 subjects with typical RSS, 77% (50 subjects) had gastrointestinal symptoms. The major symptoms included gastroesophageal reflux disease (34%), food aversion (32%), and esophagitis (25%).  The latter two are often a result of gastroesophageal reflux.

 

These observations suggest that the GI problems are often significant components of typical, “clear cut” RSS. The high incidence of reflux and esophagitis resulted in Nissen fundoplications in many affected individuals (18%). The group with GI complications also showed a high frequency of hypoglycemia (36%) as compared to the overall group (25%).  Blue sclera and kidney abnormalities were also more common among those with GI complaints.

 

These findings have important implications for management. In IUGR children with failure to thrive and presenting with severe GI symptoms the diagnosis of RSS should be considered.

 

Anderson J, et al. Am J Med Genet 2002;113:15-19.

 

First Editor’s Comment: Among children with RSS, about 10% have uniparental maternal disomy for chromosome 7. It is not yet clear whether they also have this very high frequency of GI symptoms. This type of phenotype/genotype associations needs to continue to be explored since they are so important for natural history and management.

 

Judith G. Hall, OC, MD

 

Second Editor’s Comment: The association of failure to thrive, gastroesophageal reflux disease, and hypoglycemia is important. Inadequate nutrient intake increases the risks of hypoglycemia. This complication must be considered and hopefully prevented in these patients.

 

Fima Lifshitz, MD

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