Russell-Silver syndrome (RSS) is characterized by intrauterine growth retardation (IUGR), postnatal growth delay (<3%), short stature accompanied by normal skeletal survey and frequently delayed bone age, normal head circumference, and limb assymetry. Typical appearance includes a triangular face with small chin and prominent forehead. Approximately 7-10% of cases of RSS are caused by maternal uniparental disomy (UPD) for chromosome 7.
2 - 4 weeks
Specimen Types Accepted