Platyspondylic dysplasia, Torrance type
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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.
Descrizione
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.
Modelli di ereditarietà
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Altri nomi
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
Problemi all'anca
For example, a back problem can cause pain in the hip area and hip problems can be felt ... Causes of anca problems in children Developmental dysplasia of the 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
Dislocazione
Dislocations sono injuries 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
Esofago di Barrett
However, these cells have an increas... The changed cells in Barrett's oesophagus can develop something called dysplasia. A cell with dysplasia è 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. Displasia There are various degrees of dysplasia - from.
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Cancro alla bocca
Cancro alla bocca può 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.
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Esami fisici per neonati
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 anca joint develops..
Patient information leaflet
Crescita limitata
Dwarfism è 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 tends to be associated with other problems such as a cleft palate, club feet, chest abnormalities and abnormally shaped ears..
Ulteriori letture e riferimenti
- 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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