Boomerang dysplasia

Boomerang dysplasia syndrome is a lethal skeletal dysplasia.

Affected individuals are born with clots, malformations of the hips, knees, and elbows, as well as underdeveloped bones of the spine, ribs, and pelvis. The limbs are often non- or underdeveloped. The name derives its name from the boomerang-shaped femurs. The patients are small grown.

Some patients had a brain protrusion and an opening of the abdominal wall. A broad root of the nose and hypoplasia of the nasal pharynx and nasal septum provide a characteristic facies.

So far, the syndrome has been diagnosed in only ten cases. Some of the patients also showed symptoms of Atelosteogenesis type 1, suggesting the same pathological spectrum of the diseases.