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Severe Silver-Russell syndrome
D Donnai1, E Thompson, J Allanson
1Regional Genetic Service, St Mary's Hospital, Manchester.
Journal of Medical Genetics
|July 1, 1989
Insights
Severe Silver-Russell syndrome presents significant medical issues within the first two years of life. Consider this genetic disorder in diagnosing children with severe growth deficiency.
Area of Science:
- Pediatrics
- Genetics
- Endocrinology
Background:
- Silver-Russell syndrome (SRS) is a rare genetic disorder characterized by intrauterine and postnatal growth retardation.
- Diagnosis often relies on clinical features, but genetic testing can confirm specific causes.
Observation:
- This report details three pediatric cases of severe Silver-Russell syndrome.
- All three children experienced major medical complications during their initial two years of life.
Findings:
- Severe SRS can manifest with significant health problems early in childhood.
- The clinical presentation underscores the severity associated with this condition.
Implications:
- Healthcare providers should include Silver-Russell syndrome in the differential diagnosis for infants and children with pronounced pre- and postnatal growth deficits.
- Early consideration aids in timely management and genetic counseling for affected families.
Abstract:
Three children are described with severe Silver-Russell syndrome. Major medical problems occurred in the first two years of life in all three. Silver-Russell syndrome should be considered in the differential diagnosis of children with severe pre- and postnatal growth deficiency.