Russell-Silver dwarfism is a very rare syndrome representing a form of primordial dwarfism.
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Epidemiology
Associations
Clinical presentation
intrauterine growth restriction: tends to give an asymmetrical IUGR
relatively large calvarium: pseudohydrocephalus
clinodactyly/clinobrachydactyly of the small finger
a typical triangular type face
Pathology
It is considered a type of primordial dwarfism.
Genetics
Most cases are sporadic 7. Genetic and epigenetic disturbances may be detected in approximately 50% of patients with classic features. Hypomethylation of the imprinting in chromosome 11p15 is considered a major epigenetic disturbance. Maternal uniparental disomy (mUPD) of chromosome 7 can account for 10% of cases 3.
Radiographic features
Ultrasound
Individual sonographic features are non-specific. Fetal biometric parameters may show shortened fetal long bones.
Other features that may be detected sonographically include:
asymmetrical IUGR pattern
clinodactyly of little finger
Treatment and prognosis
Prognosis is generally favorable.
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