Literature DB >> 7377759

Hereditary spinal arachnoid cysts, distichiasis, and lymphedema.

J F Schwartz, M S O'Brien, J C Hoffman.   

Abstract

Familial congenital spinal arachnoid cysts causing progressive paraplegia are reported in two adolescent siblings as part of a hereditary syndrome. The other features of this unusual dominantly inherited disorder include double rows of eyelashes, partial ectropion of the lower eyelids, and acquired late-onset lymphedema of the lower extremities. The siblings' mother, who had roentgenographic evidence of a similar intraspinal lesion, was free of neurological symptoms but had the other characteristic features. Surgical treatment of the arachnoid cysts improves the progressive paraplegia.

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Year:  1980        PMID: 7377759     DOI: 10.1002/ana.410070410

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  11 in total

1.  Distichiasis: management with cryotherapy to the posterior lamella.

Authors:  B A O'Donnell; J R Collin
Journal:  Br J Ophthalmol       Date:  1993-05       Impact factor: 4.638

2.  Clinical heterogeneity in lymphoedema-distichiasis with FOXC2 truncating mutations.

Authors:  R P Erickson; S L Dagenais; M S Caulder; C A Downs; G Herman; M C Jones; W S Kerstjens-Frederikse; A C Lidral; M McDonald; C C Nelson; M Witte; T W Glover
Journal:  J Med Genet       Date:  2001-11       Impact factor: 6.318

Review 3.  Spinal meningeal malformations in children (without meningoceles or meningomyeloceles).

Authors:  J Richaud
Journal:  Childs Nerv Syst       Date:  1988-04       Impact factor: 1.475

4.  Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome.

Authors:  J Fang; S L Dagenais; R P Erickson; M F Arlt; M W Glynn; J L Gorski; L H Seaver; T W Glover
Journal:  Am J Hum Genet       Date:  2000-11-08       Impact factor: 11.025

Review 5.  Neonatal anterior cervical arachnoid cyst: case report and review of the literature.

Authors:  Felipe Jain; Kaisorn L Chaichana; Matthew J McGirt; George I Jallo
Journal:  Childs Nerv Syst       Date:  2008-03-13       Impact factor: 1.475

Review 6.  Familial intracranial arachnoid cysts.

Authors:  S Pomeranz; S Constantini; I Lubetzki-Korn; N Amir
Journal:  Childs Nerv Syst       Date:  1991-04       Impact factor: 1.475

7.  Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24.

Authors:  G Brice; S Mansour; R Bell; J R O Collin; A H Child; A F Brady; M Sarfarazi; K G Burnand; S Jeffery; P Mortimer; V A Murday
Journal:  J Med Genet       Date:  2002-07       Impact factor: 6.318

8.  A novel FOXC2 mutation in spinal extradural arachnoid cyst.

Authors:  Yoji Ogura; Shunsuke Fujibayashi; Aritoshi Iida; Ikuyo Kou; Masahiro Nakajima; Eijiro Okada; Yoshiaki Toyama; Akio Iwanami; Ken Ishii; Masaya Nakamura; Morio Matsumoto; Shiro Ikegawa
Journal:  Hum Genome Var       Date:  2015-09-17

9.  FOXC2 mutations in familial and sporadic spinal extradural arachnoid cyst.

Authors:  Yoji Ogura; Shoji Yabuki; Aritoshi Iida; Ikuyo Kou; Masahiro Nakajima; Hiroki Kano; Masaaki Shiina; Shinichi Kikuchi; Yoshiaki Toyama; Kazuhiro Ogata; Masaya Nakamura; Morio Matsumoto; Shiro Ikegawa
Journal:  PLoS One       Date:  2013-11-22       Impact factor: 3.240

10.  Original surgical treatment of thoracolumbar subarachnoid cysts in six chondrodystrophic dogs.

Authors:  Camille Bismuth; François-Xavier Ferrand; Mathilde Millet; Philippe Buttin; Didier Fau; Thibaut Cachon; Eric Viguier; Catherine Escriou; Claude Carozzo
Journal:  Acta Vet Scand       Date:  2014-05-16       Impact factor: 1.695

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