Platyspondylic dysplasia, Torrance type
Senast uppdaterad 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.
Beskrivning
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
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Vidare läsning och referenser
- 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.
Artikelhistorik
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20 dec 2024 | Senaste versionen
1 Dec 2024 | Ursprungligen publicerad
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