Boomerang dysplasia
Overview
A rare lethal disorder characterized by bone abnormalities (lack of bone ossification and missing bones) and a characteristic face.
Symptoms
* Boomerang-shaped long bones of leg * Dwarfism * Characteristic facial features * Absent radius * Absent tibia * Abnormal tibia * Absent fibula * Broad nasal root * Underdeveloped nostrils * Abnormal fibula * Narrow rib cage * Underdeveloped lungs * Toe abnormalities * Finger abnormalities * Missing humerus * Abnormal long bones * Missing femur
Causes
Mutations in the Filamin B (FLNB) gene cause boomerang dysplasia
Diagnosis
Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor