Revision 7 for 'Russell-Silver dwarfism'All Revisions
Russell-Silver dwarfism is a very rare syndrome characterized by
- intra uterine growth restriction : tends to give an asymmetrical IUGR
- post natal growth restriction :
- relatively large calvarium : pseudohydrocephalus
- clinodactyly / clinobrachydactyly of the small finger
- a typical triangular type face
It is considered a type of primordial dwarfism.
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.
Individual sonographic features are non-specific. Fetal biometric parameters may show shortened fetal long bones
Other features that may be detected sonographically include
Prognosis is generally favourable