Boomerang dysplasia
Zuletzt aktualisiert 18. Aug 2020
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Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
Beschreibung
Boomerang dysplasia is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Pronounced bowing of the upper leg bones (femurs) gives them a "boomerang" shape.
Some individuals with boomerang dysplasia have a sac-like protrusion of the brain (encephalocele). They may also have an opening in the wall of the abdomen (an omphalocele) that allows the abdominal organs to protrude through the navel. Affected individuals typically have a distinctive nose that is broad with very small nostrils and an underdeveloped partition between the nostrils (septum).
Individuals with boomerang dysplasia typically have an underdeveloped rib cage that affects the development and functioning of the lungs. As a result, affected individuals are usually stillborn or die shortly after birth from respiratory failure.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Other names
Piepkorn dysplasia
Related patient information and medicines
Patient information leaflet
Hüftprobleme
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of Hüfte problems in children Developmental dysplasia of Arztpraxis hip (DDH) A painless condition that can affect newborns, DDH makes the hip joint unstable so that it can dislocate (something that very rarely happens to the hip joint otherwise). It is.
Patient information leaflet
Neugeborenen-Untersuchungen
Checking your baby's skin for birthmarks and rashes, as well as colour and texture. Examination of your baby's hips. This is a test to exclude developmental dysplasia of the hip , which is problem with the way that the hip joint develops. Examination of your baby's scrotum (in boys). All boys have their scrotum examined to determine if the.
Patient information leaflet
Frühgeborene
Premature babies are born too early, before they have fully developed in the womb. They often need extra or intensive medical care and support while their organs continue to develop to a point where they can survive without specialist help. Most premature babies go on to have normal h... Pneumothorax. It is treated by draining out the air with a.
Patient information leaflet
Luxation
A dislocation ist ein Verletzungen in which the bones in a joint are forced apart and out of their usual positions. To dislocate the bones of a large joint usually needs considerable force (although t... Dislocation of artificial hips in the period following hip replacement surgery - this is relatively common as the muscles and ligaments around the new.
Patient information leaflet
Eingeschränktes Wachstum
Dwarfism is a medical or genetic condition which causes people to have restricted growth so that they are shorter than average. Specifically, people with dwarfism grow no higher than 4 ft 10 ins (147 cm). It can be due to literally hundreds of different causes, so the term actually includes many different medical conditions. The cause and type of.
Patient information leaflet
Barrett-Ösophagus
However, these cells have an increased risk, compared with normal gullet (oesophageal) cells, of turning cancerous in time. The changed cells in Barrett's oesophagus can develop something called dysplasia. A cell with Dysplasie ist ein abnormal cell. It is not cancerous but is more likely than other cells to develop into cancer. Dysplasia There are.
Weiterführende Lektüre und Referenzen
- Boomerang dysplasia; MedlinePlus, National Library of Medicine.
- Bicknell LS, Morgan T, Bonafe L, Wessels MW, Bialer MG, Willems PJ, Cohn DH, Krakow D, Robertson SP. Mutations in FLNB cause boomerang dysplasia. J Med Genet. 2005 Jul;42(7):e43. doi: 10.1136/jmg.2004.029967.
- Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C, Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H, Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A, Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations in the gene encoding filamin B disrupt vertebral segmentation, joint formation and skeletogenesis. Nat Genet. 2004 Apr;36(4):405-10. doi: 10.1038/ng1319. Epub 2004 Feb 29.
- Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associated substitutions in the filamin B actin binding domain confer enhanced actin binding affinity in the absence of major structural disturbance: Insights from the crystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul 31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009. Epub 2009 Jun 6.
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18. Aug 2020 | Neueste Version
1 Sept 2011 | Ursprünglich veröffentlicht
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