Heterozygous missense mutations in this gene cause Duane's retraction syndrome 2 (DURS2). "RCSB Protein Data Bank - Structure ... "Human CHN1 mutations hyperactivate α2-chimaerin and cause Duane's retraction syndrome". Science. 321 (5890): 839-43. doi: ... GeneReviews/NCBI/NIH/UW entry on Duane syndrome Chimerin 1 at the US National Library of Medicine Medical Subject Headings ( ...
... have been associated with Duane retraction syndrome. CPA6 processes several neuropeptides, including [Met]- and [Leu]enkephalin ... "A peptidase gene in chromosome 8q is disrupted by a balanced translocation in a duane syndrome patient". Investigative ...
Individuals with nystagmus, Duane's retraction syndrome, 4th Nerve Palsy, and other eye movement disorders experience an ...
... the exception is when it is congenitally acquired as in Duane-Retraction Syndrome and Marcus Gunn phenomenon). Trauma to the ... Rarely, it is part of syndromes with neuroendocrine problems such as Kallman syndrome. The prognosis is usually good with ... A more specific synkinesis, crocodile tears syndrome (hyperlacrimation upon eating), has been shown to respond exceedingly well ... In association with other abnormalities, mirror hand movements are a hallmark of Kallmann syndrome. Genetic mutations ...
Congenital fourth nerve palsy Inferior oblique overaction Brown's syndrome Duane's retraction syndrome Double elevator palsy ...
Duane's name is associated with a few medical eponyms, including "Duane's parallax test", "Duane's retraction syndrome" and " ... "Duane's prism test for latent squint". Ophthalmology Hall of Fame, Alexander Duane (biography) Obituary from PubMed (Originally ... Alexander Duane (September 1, 1858 - June 10, 1926) was an American ophthalmologist who was a native of Malone, New York. He ... Duane is remembered for contributions made in the study of the eye and vision, including aspects such as refraction, ...
Duane's retraction syndrome, eye retraction syndrome, retraction syndrome, congenital retraction syndrome and Stilling-Türk- ... Review article on Duane's syndrome Duanes Syndrome at eMedicine Duane retraction syndrome on EyeWiki from the American Academy ... Duane syndrome has no particular race predilection. Duane's syndrome has three variants: Type I: Limited abduction with or ... Hotchkiss MG, Miller NR, Clark AW, Green WR (May 1980). "Bilateral Duane's retraction syndrome. A clinical-pathologic case ...
... duane retraction syndrome MeSH C11.590.312 --- miller fisher syndrome MeSH C11.590.400 --- nystagmus, pathologic MeSH C11.590. ... duane retraction syndrome MeSH C11.270.468 --- gyrate atrophy MeSH C11.270.564 --- optic atrophies, hereditary MeSH C11.270. ... horner syndrome MeSH C11.710.570 --- mydriasis MeSH C11.710.800 --- tonic pupil MeSH C11.710.800.180 --- adie syndrome MeSH ... dry eye syndromes MeSH C11.496.260.394 --- keratoconjunctivitis sicca MeSH C11.496.260.719 --- sjogren's syndrome MeSH C11.496. ...
Duane Anomaly Limitation of abduction of the eye Retraction of the globe Narrowing of the palpebral fissure during adduction ... Also known as Duane syndrome, Duane anomaly is a congenital strabismus syndrome that is characterized by certain eye movements ... Duane-radial ray syndrome has two major features that appear in the majority of cases. These two features are Duane anomaly and ... The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two ...
EFEMP1 Dravet syndrome; 607208; SCN1A Duane retraction syndrome 2; 604356; CHN1 Duane-radial ray syndrome; 607323; SALL4 Dubin- ... AKAP9 Long QT syndrome-3; 603830; SCN5A Long QT syndrome-4; 600919; ANK2 Long QT syndrome-7; 170390; KCNJ2 Long QT syndrome-9; ... TGFBR2 Long QT syndrome 12; 612955; SNT1 Long QT syndrome 13; 613485; KCNJ5 Long QT syndrome-1; 192500; KCNQ1 Long QT syndrome- ... KRAS Noonan syndrome 4; 610733; SOS1 Noonan syndrome 5; 611553; RAF1 Noonan syndrome 6; 613224; NRAS Noonan-like syndrome with ...
Wabbels BK, Lorenz B, Kohlhase J (Dec 2004). "No evidence of SALL4-mutations in isolated sporadic duane retraction "syndrome" ( ... "SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders". Human ... "SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders". Human ... "Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family ...
... mobius syndrome MeSH C10.292.562.250 --- duane retraction syndrome MeSH C10.292.562.350 --- miller fisher syndrome MeSH C10.292 ... cri-du-chat syndrome MeSH C10.597.606.643.210 --- de lange syndrome MeSH C10.597.606.643.220 --- down syndrome MeSH C10.597. ... melas syndrome MeSH C10.228.140.163.100.540 --- menkes kinky hair syndrome MeSH C10.228.140.163.100.545 --- merrf syndrome MeSH ... rett syndrome MeSH C10.597.606.643.690 --- prader-willi syndrome MeSH C10.597.606.643.700 --- rubinstein-taybi syndrome MeSH ...
... duane retraction syndrome MeSH C16.320.290.468 --- gyrate atrophy MeSH C16.320.290.564 --- optic atrophies, hereditary MeSH ... branchio-oto-renal syndrome MeSH C16.131.260.190 --- cri-du-chat syndrome MeSH C16.131.260.210 --- de lange syndrome MeSH ... branchio-oto-renal syndrome MeSH C16.320.180.190 --- cri-du-chat syndrome MeSH C16.320.180.210 --- de lange syndrome MeSH ... cockayne syndrome MeSH C16.131.077.262 --- cri-du-chat syndrome MeSH C16.131.077.272 --- de lange syndrome MeSH C16.131.077.327 ...
Intermittent forms of vertical retraction syndrome have been associated with click, which occurs as the restriction is released ... Strabismus Strabismus surgery Pediatric ophthalmology Duane syndrome Emmett T. Cunningham; Paul Riordan-Eva. Vaughan & Asbury's ... Familial occurrence of Brown's syndrome has been reported. A simple definition of the syndrome is "limited elevation in ... After further research, he redefined the sheath syndrome into the following divisions: true sheath syndrome, which categorized ...
Other specified strabismus Duane syndrome (H50.9) Strabismus, unspecified (H51) Other disorders of binocular movement (H51.0) ... Other disorders affecting eyelid function Ankyloblepharon Blepharophimosis Lid retraction (H02.6) Xanthelasma of eyelid (H02.7 ... Mechanical strabismus Brown's sheath syndrome Strabismus due to adhesions Traumatic limitation of duction of eye muscle (H50.8 ... Other paralytic strabismus External ophthalmoplegia NOS Kearns-Sayre syndrome (H49.9) Paralytic strabismus, unspecified (H50) ...