Literature DB >> 1463415

Peters' anomaly and associated congenital malformations.

E I Traboulsi1, I H Maumenee.   

Abstract

We reviewed the clinical findings in 29 patients with Peters' anomaly. There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous system in four patients, genitourinary malformations in four patients, cleft lip/palate in three patients, hearing loss in three patients, spinal defects in two patients, and single cases of other less common defects. One patient had fetal alcohol syndrome; one, Pfeiffer's syndrome; and one, short stature, ulnar hypoplasia, and joint laxity. Colobomatous microphthalmia was present in seven patients, and persistent hyperplastic primary vitreous in three patients. Ten patients developed glaucoma, and three had retinal detachment unrelated to ocular surgery. Peters' anomaly may be due to a developmental field defect, or the complex ocular and systemic malformations may be the result of a contiguous gene syndrome or of a defective homeotic gene controlling the development of the eye and other body structures.

Entities:  

Mesh:

Year:  1992        PMID: 1463415     DOI: 10.1001/archopht.1992.01080240079035

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN: 0003-9950


  22 in total

1.  Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes.

Authors:  E Weh; L M Reis; R C Tyler; D Bick; W J Rhead; S Wallace; T L McGregor; S K Dills; M-C Chao; J C Murray; E V Semina
Journal:  Clin Genet       Date:  2013-09-17       Impact factor: 4.438

2.  ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells.

Authors:  Bon-Hun Koo; David M Coe; Laura J Dixon; Robert P T Somerville; Courtney M Nelson; Lauren W Wang; Mary Elizabeth Young; Daniel J Lindner; Suneel S Apte
Journal:  Am J Pathol       Date:  2010-01-21       Impact factor: 4.307

3.  Through the looking glass: eye anomalies in the age of molecular science.

Authors:  Patrick Calvas; Elias I Traboulsi; Nicola Ragge
Journal:  Hum Genet       Date:  2019-08-07       Impact factor: 4.132

4.  [Long-term prognosis of Peters anomaly].

Authors:  S Reichl; D Böhringer; O Richter; W Lagrèze; T Reinhard
Journal:  Ophthalmologe       Date:  2018-04       Impact factor: 1.059

5.  A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure.

Authors:  Osamu Motoyama; Hiroko Arai; Ryoko Harada; Kei Hasegawa; Kikuo Iitaka
Journal:  Clin Exp Nephrol       Date:  2010-04-28       Impact factor: 2.801

6.  Outcome of optical iridectomy in Peters anomaly.

Authors:  Oriel Spierer; Kara M Cavuoto; Sirinya Suwannaraj; Craig A McKeown; Ta Chen Chang
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2018-04-28       Impact factor: 3.117

7.  Two novel mutations of the PAX6 gene causing different phenotype in a cohort of Chinese patients.

Authors:  X Zhang; Y Tong; W Xu; B Dong; H Yang; L Xu; Y Li
Journal:  Eye (Lond)       Date:  2011-09-09       Impact factor: 3.775

8.  A novel mutation of PAX6 in Chinese patients with new clinical features of Peters' anomaly.

Authors:  Xiuhua Jia; Xiangming Guo; Xiaoyun Jia; Xueshan Xiao; Shiqiang Li; Qingjiong Zhang
Journal:  Mol Vis       Date:  2010-04-15       Impact factor: 2.367

9.  Peters' anomaly - anaesthetic management.

Authors:  Senthilkumar M; Darlong V; Jyotsna Punj; Ravinder Pandey
Journal:  Indian J Anaesth       Date:  2009-08

Review 10.  Nervous system involvement in Pfeiffer syndrome.

Authors:  Ioannis N Mavridis; Desiderio Rodrigues
Journal:  Childs Nerv Syst       Date:  2020-10-20       Impact factor: 1.475

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