Congenital dwarfism with marked shortness and
deformity of all four limbs is the most striking feature of this condition.
Defects of the frontal bones in combination with an encephalocele have been
reported. The nose has a flat and broad nasal root, a hypoplastic nasal
septum and slanted nares. Cleft palate, malar hypoplasia, micrognathia, and
short neck have been observed. Radiographically, the long bones may be absent,
hypoplastic, or characteristically curved and flat, giving the condition its
name boomerang dysplasia. Absent radii and fibulae, hypoplastic ilia, and
absent pubic bones are other consistent findings. Retarded ossification of the
spine and digits occurs. Boomerang dysplasia is a universally fatal
condition; all reported patients died within the first hours of birth.