Platyspondylic dysplasia, Torrance type
Zuletzt aktualisiert 20 Dec 2024
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Platyspondylic dysplasia, Torrance type is a severe disorder of bone growth. Infants with this condition have very short arms and legs, severely flattened bones of the spine (platyspondyly), and unusually short fingers and toes (brachydactyly). Affected individuals also tend to have a small chest with short ribs that can restrict the growth and expansion of the lungs.
Beschreibung
Platyspondylic dysplasia, Torrance type is a severe disorder of bone growth. Infants with this condition have very short arms and legs, severely flattened bones of the spine (platyspondyly), and unusually short fingers and toes (brachydactyly). Affected individuals also tend to have a small chest with short ribs that can restrict the growth and expansion of the lungs.
The serious health problems seen in infants with platyspondylic dysplasia, Torrance type often result in death before birth or shortly thereafter; respiratory failure is a common cause of death.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
Platyspondylic dysplasia, Torrance-Luton type
Platyspondylic dysplasia, type Torrance, COL2A1-related
Platyspondylic lethal skeletal dysplasia, Torrance type
PLSD-T
Related patient information and medicines
Patient information leaflet
Hüftprobleme
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Patient information leaflet
Ehlers-Danlos-Syndrom
The Ehlers-Danlos syndromes (EDS) are a group of conditions that affect the stretchiness and strength of supporting tissues in the body, including skin, joints, blood vessels and internal organs. They vary in their impact from very mild through to very severe. If a parent has only one faulty gene, they will generally NOT have the c....
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Luxation
Dislocations sind Verletzungen where the bones in a joint are forced apart and into an abnormal position; they are caused by an injury which produces an impact on the joint These would include falls, accidents involving vehicles and collisions during contact sports. If the joint is injured and pulled apart, the structures of the joint, plus the bones.
Patient information leaflet
Barrett-Ösophagus
However, these cells have an increas... The changed cells in Barrett's oesophagus can develop something called dysplasia. A cell with dysplasia ist an abnormal cell. It is not cancerous but is more likely than other cells to develop into cancer. It is often called a precancerous cell. Dysplasia There are various degrees of Dysplasie - from.
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Mundkrebs
Mundkrebs können affect any part of the mouth, including the tongue and lips. The most common symptoms are having a sore or ulcer for more than three weeks. The outlook (prognosis) for people with ... What is mouth cancer. Mouth cancer is a cancer that can develop in any part of the mouth, including the tongue, the gums, the palate (roof of the.
Patient information leaflet
Neugeborenen-Untersuchungen
This is done to ensure that your baby does not have an enlarged liver or spleen or have any abnormal swell... 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 Hüfte joint develops..
Weiterführende Lektüre und Referenzen
- Platyspondylic dysplasia, Torrance type; MedlinePlus, National Library of Medicine.
- Gregersen PA, Savarirayan R. Type II Collagen Disorders Overview. 2019 Apr 25 [updated 2024 Oct 24]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK540447/
- Neumann L, Kunze J, Uhl M, Stover B, Zabel B, Spranger J. Survival to adulthood and dominant inheritance of platyspondylic skeletal dysplasia, Torrance-Luton type. Pediatr Radiol. 2003 Nov;33(11):786-90. doi: 10.1007/s00247-003-1055-x. Epub 2003 Sep 5.
- Nishimura G, Nakashima E, Mabuchi A, Shimamoto K, Shimamoto T, Shimao Y, Nagai T, Yamaguchi T, Kosaki R, Ohashi H, Makita Y, Ikegawa S. Identification of COL2A1 mutations in platyspondylic skeletal dysplasia, Torrance type. J Med Genet. 2004 Jan;41(1):75-9. doi: 10.1136/jmg.2003.013722. No abstract available.
- Okamoto T, Nagaya K, Asai H, Tsuchida E, Nohara F, Hayashi T, Yamashita A, Nishimura G, Azuma H. Platyspondylic lethal dysplasia torrance type with a heterozygous mutation in the triple helical domain of COL2A1 in two sibs from phenotypically normal parents. Am J Med Genet A. 2012 Aug;158A(8):1953-6. doi: 10.1002/ajmg.a.35509. Epub 2012 Jun 18.
- Zankl A, Neumann L, Ignatius J, Nikkels P, Schrander-Stumpel C, Mortier G, Omran H, Wright M, Hilbert K, Bonafe L, Spranger J, Zabel B, Superti-Furga A. Dominant negative mutations in the C-propeptide of COL2A1 cause platyspondylic lethal skeletal dysplasia, torrance type, and define a novel subfamily within the type 2 collagenopathies. Am J Med Genet A. 2005 Feb 15;133A(1):61-7. doi: 10.1002/ajmg.a.30531.
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20 Dec 2024 | Neueste Version
1 Dec 2024 | Ursprünglich veröffentlicht
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