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Parastremmatic dysplasia is a rare skeletal dysplasia that is characterized by shortening of the trunk, joint contractures, limb deformities, a short stiff neck, malformation of the pelvis, kyphosis of thoracic spine and urinary incontinence.
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Parastremmatic dysplasia belongs to a group of autosomal dominant skeletal dysplasias, all of which have in common a mutation of the transient receptor potential cation channel, subfamily V, member 4 (TRPV4) 1-4.
- expanded metaphysis and epiphysis of long bones
- distorted and flattened vertebrae
- scoliosis of spine
- irregular patches of sclerosis giving flocculent appearance
History and etymology
The term "parastremmatic" derives from the Greek word παραστρεμμα, meaning "distorted limb" and was first suggested by Langer et al. in 1970 5.
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- 2. McCray B, Schindler A, Hoover-Fong J, Sumner C. Autosomal Dominant Disorders. 1993. - Pubmed
- 3. Nishimura G, Lausch E, Savarirayan R et al. TRPV4-Associated Skeletal Dysplasias. Am J Med Genet C Semin Med Genet. 2012;160C(3):190-204. doi:10.1002/ajmg.c.31335 - Pubmed
- 4. Dai J, Cho T, Unger S et al. TRPV4-Pathy, a Novel Channelopathy Affecting Diverse Systems. J Hum Genet. 2010;55(7):400-2. doi:10.1038/jhg.2010.37 - Pubmed
- 5. Langer L, Petersen D, Spranger J. An Unusual Bone Dysplasia: Parastremmatic Dwarfism. AJR Am J Roentgenol. 1970;110(3):550-60. doi:10.2214/ajr.110.3.550 - Pubmed