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Page 1
Orthodontic Treatment in a Patient With Kniest Dysplasia: A Case Study and Review of Literature.
Jhamb T, Masood H, Arigo J, Rossouw PE. Jhamb T, et al. Cleft Palate Craniofac J. 2019 Nov;56(10):1393-1403. doi: 10.1177/1055665619854617. Epub 2019 Jun 18. Cleft Palate Craniofac J. 2019. PMID: 31213073 Review.
Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofacial irregularities. These craniofacial abnormalities include cleft palate, midface anomalies, tracheomalacia, and hearing loss. This article
Kniest dysplasia is a rare autosomal dominant chondrodysplasia that is characterized by distinct musculoskeletal and craniofac
The type XI collagenopathies.
Spranger J. Spranger J. Pediatr Radiol. 1998 Oct;28(10):745-50. doi: 10.1007/s002470050459. Pediatr Radiol. 1998. PMID: 9799295 Review.
On the basis of molecular studies, three type XI collagenopathies have been defined: Stickler syndrome type II, and dominant and recessive oto-spondylo-megaepiphyseal dysplasia (OSMED). Stickler syndrome I and Kniest dysplasia are type II collagenopathies with consi …
On the basis of molecular studies, three type XI collagenopathies have been defined: Stickler syndrome type II, and dominant and recessive o …
Review of cervical spine anomalies in genetic syndromes.
McKay SD, Al-Omari A, Tomlinson LA, Dormans JP. McKay SD, et al. Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Spine (Phila Pa 1976). 2012. PMID: 22045003 Review.
Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Goldenhar syndrome, spondyloepiphyseal dysplasia congenita, and Kniest dysplasia. Finally, the chin-on-chest deformity of fibrodysplasia …
Next, the upper cervical abnormalities seen in Down syndrome, 22q11.2 Deletion syndrome, pseudoachondroplasia, Morquio syndrome, Goldenhar s …
The type II collagenopathies: a spectrum of chondrodysplasias.
Spranger J, Winterpacht A, Zabel B. Spranger J, et al. Eur J Pediatr. 1994 Feb;153(2):56-65. doi: 10.1007/BF01959208. Eur J Pediatr. 1994. PMID: 8157027 Review.
Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita, Kniest dysplasia, Stickler arthroophthalmopathy and mild dominant spondyloarthropathy. ...
Clinical entities caused by mutations in the COL2A1 gene coding for type II collagen comprise achondrogenesis II, hypochondrogenesis, spondy …
[Kniest dysplasia].
Iwasaki K. Iwasaki K. Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):51-2. Ryoikibetsu Shokogun Shirizu. 2001. PMID: 11528867 Review. Japanese. No abstract available.
[Paediatric retinal detachment and hereditary vitreoretinal disorders].
Meier P. Meier P. Klin Monbl Augenheilkd. 2013 Sep;230(9):914-9. doi: 10.1055/s-0033-1350759. Epub 2013 Aug 28. Klin Monbl Augenheilkd. 2013. PMID: 23986190 Review. German.
One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stickler syndrome, Wagner syndrome, Kniest dysplasia, familial exudative vitreoretinopathy, congenital X-linked retinoschisis, Kno …
One predisposing factor for development of paediatric retinal detachment is suffering from hereditary vitreoretinal degeneration (e.g., Stic …
[Evidence of heterogeneity in dyssegmental dysplasia].
Oliván Gonzalvo G, Bueno Sánchez M. Oliván Gonzalvo G, et al. An Esp Pediatr. 1990 Sep;33(3):213-23. An Esp Pediatr. 1990. PMID: 2285185 Review. Spanish.
Clinical, radiographic, and histologic examination of these cases of the literature demonstrates the presence of two distinct forms of dyssegmental dysplasia, the milder form (type Rolland-Desbuquois), characterized clinically by frequent survival beyond the newborn period and by …
Clinical, radiographic, and histologic examination of these cases of the literature demonstrates the presence of two distinct forms of dysse …
[Two cases of Kniest dysplasia--ocular manifestations].
Kagotani Y, Takao K, Nomura K, Okubo K. Kagotani Y, et al. Nippon Ganka Gakkai Zasshi. 1995 Mar;99(3):376-83. Nippon Ganka Gakkai Zasshi. 1995. PMID: 7732932 Review. Japanese.
We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length causing high myopia, and vitreoretinal degeneration. ...The literature on vitreoretinal degeneration such as Wagner's disease or Stickler synd …
We report ocular findings from 2 children with Kniest dysplasia. Both eyes of the 2 patients had abnormal long axial length ca …