Prenatal and neonatal diagnosis of<unk>  includes several prominent features found in other osteochondrodysplasias, though the<unk> " malformation seen in the long bones is the delineating factor. Featured symptoms of<unk>  include: dwarfism (a lethal type of infantile dwarfism caused by systemic bone deformities), underossification (lack of bone formation) in the limbs, spine and ilium (pelvis); proliferation of multinucleated giant-cell chondrocytes (cells that produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and micromelia (undersized, shortened bones). The characteristic<unk> " malformation presents intermittently among random absences of long bones throughout the skeleton, in affected individuals. For example, one individual may have an absent radius and fibula, with the<unk> " formation found in both ulnas and tibias. Another patient may present<unk> " femora, and an absent tibia.
Boomerang dysplasia
Acromicric dysplasia
Sponastrime dysplasia
Phakomatosis
Infantile hemangioma
Metachondromatosis
Tornwaldt cyst
Vernix caseosa