Disruptions in this pathway, caused by FLNB mutations, result in the bone and cartilage abnormalities associated with boomerang dysplasia.Chondrocytes, which also have a role in bone development, are susceptible to these disruptions and either fail to undergo ossification, or ossify incorrectly.FLNB mutations are involved in a spectrum of lethal bone dysplasias. One such disorder, atelosteogenesis type I, is very similar to boomerang dysplasia, and several symptoms of both often overlap. Genetics
Early journal reports of boomerang dysplasia suggested X-linked recessive inheritance, based on observation and family history. It was later discovered, however, that the disorder is actually caused by a sporadic genetic mutation fitting an autosomal dominant genetic profile.Autosomal dominant inheritance indicates that the defective gene responsible for a disorder is located on an autosome, and only one copy of the gene is sufficient to cause the disorder, when inherited from a parent who has the disorder.Boomerang dysplasia, although an autosomal dominant disorder, is not inherited because those afflicted do not live beyond infancy. They cannot pass the gene to the next generation. Diagnosis
Treatment
See also
Larsen syndrome

References


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A focal lung pneumatosis,  is an enclosed pocket of air or gas in the lung and includes blebs, bullae, pulmonary cysts, and lung cavities. Blebs and bullae can be classified by their wall thickness. A bleb has a wall thickness of less than 1 mm. By radiology definition, it is up to 1 cm in total size. By pathology definition, it originates in the pleurae (rather than in the lung parenchyma). A bulla has a wall thickness of less than 1 mm. By radiology definition, it has a total size of greater than 1 cm. By pathology definition, it originates in the lung parenchyma (rather than in the pleurae). A lung cyst has a wall thickness of up to 4 mm. A minimum wall thickness of 1 mm has been suggested, but thin-walled pockets may be included in the definition as well. A cavity has a wall thickness of more than 4 mm.The terms above, when referring to sites other than the lungs, often imply fluid content. Lung cysts are seen in about 8% of the general population, with an increased prevalence in older people, and are not associated with emphysema. They may be part of the aging changes of the lungs, and cause a slight decrease in their diffusing capacity. The presence of multiple pulmonary cysts may indicate a need to evaluate the possibility of bullous or cystic lung diseases. Cavitation indicates workup for serious infection or lung cancer.