Russell-Silver dwarfism

Russell-Silver dwarfism is a very rare syndrome characterized by:

Pathology

It is considered a type of primordial dwarfism.

Genetics

Most cases are sporadic . 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 .

Associations

Radiographic features

Antenatal ultrasound

Individual sonographic features are non-specific. Fetal biometric parameters may show shortened fetal long bones.

Other features that may be detected sonographically include:

Prognosis

Prognosis is generally favorable.