Chondrodysplasia- blomstrand type
Overview
* A rare lethal congenital condition characterized by abnormal bone development.
Symptoms
* Advanced bone maturity * Increased bone density at birth * Premature birth * Very short limbs * Short stature
Diagnosis
Diagnosis can be made as early as between 12 and 13 weeks of gestation by transvaginal ultrasound. Most infants with BLC die shortly after birth.