WordNet

deviation from the normal or common order or form or rule (同)anomalousness
a person who is unusual (同)unusual person
(astronomy) position of a planet as defined by its angular distance from its perihelion (as observed from the sun)

PrepTutorEJDIC

〈U〉〈C〉変則,例外;異常 / 〈C〉変則的な事態,異例な人(物)

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1. 微細欠失症候群（1番～11番染色体）microdeletion syndromes chromosomes 1 to 11 [show details]
…have Rieger anomaly if the iris demonstrates stromal hypoplasia, the pupils are distorted, or there are extra holes in the iris . The iris is normal in patients who only have the Axenfeld anomaly. Posterior …
2. 乳児や小児の緑内障の概要overview of glaucoma in infants and children [show details]
…displaced Schwalbe line. Axenfeld-Rieger syndrome, which includes disorders formerly known as Axenfeld anomaly, Axenfeld syndrome, Rieger anomaly, Rieger syndrome, and iridogoniodysgenesis. Posterior keratoconus…
3. 脂肪異栄養症症候群lipodystrophic syndromes [show details]
…(S-short stature; H-hyperextensibility of joints and/or hernia [inguinal]; O-ocular depression; R-Rieger anomaly; T-teething delay), and ectodermal dysplasia in association with generalized lipodystrophy acral…
4. 臍のケアおよび臍の異常のマネージメントcare of the umbilicus and management of umbilical disorders [show details]
…macrocephaly with frontal bossing, the umbilicus is high, flat, and poorly epithelialized. In Axenfeld-Rieger syndrome, a rare genetic disorder that includes malformations of the anterior chamber of the eye…
5. 瞳孔不同患者へのアプローチapproach to the patient with anisocoria [show details]
…congenital ectopic pupils, persistent pupillary membrane, polycoria, congenital heterochromia, Rieger syndrome, and other developmental anomalies of the anterior segment can produce anisocoria, which is usually…

English Journal

Aniridia and Axenfeld-Rieger Syndrome: Clinical presentations, molecular genetics and current/emerging therapies.

Chrystal PW, Walter MA.
Experimental eye research. 2019 Dec;189()107815.
Aniridia and Axenfeld-Rieger Syndrome are related, human ocular disorders that are typically inherited in an autosomal dominant manner. Both result from incorrect development of the eye and have, as their most serious consequences, elevated risk to develop the blinding condition glaucoma. This revie
PMID 31560925

Repeat keratoplasty in failed Descemet stripping automated endothelial keratoplasty.

Kaur M, Titiyal JS, Gagrani M, Shaikh F, Agarwal T, Sinha R, Sharma N.
Indian journal of ophthalmology. 2019 10;67(10)1586-1592.
To evaluate the clinical factors associated with repeat Descemet stripping automated endothelial keratoplasty (DSAEK) or penetrating keratoplasty (PKP) in cases of failed DSAEK. Retrospective observational study of cases with failed DSAEK admitted to our center for a repeat keratoplasty over 5 years
PMID 31546486

Novel PITX2 mutations identified in Axenfeld-Rieger syndrome and the pattern of PITX2-related tooth agenesis.

Fan Z, Sun S, Liu H, Yu M, Liu Z, Wong SW, Liu Y, Han D, Feng H.
Oral diseases. 2019 Sep;().
To investigate the mutations in patients with Axenfeld-Rieger syndrome (ARS) and the pattern of PITX2-related tooth agenesis. Whole-exome sequencing (WES) and copy number variation (CNV) array were used to screen the mutations in four ARS probands. After Sanger sequencing and quantitative polymerase
PMID 31529555