Literature DB >> 15666314

Lateral meningocele syndrome: vertical transmission and expansion of the phenotype.

Kelly M Chen1, Lynne Bird, Pat Barnes, Richard Barth, Louanne Hudgins.   

Abstract

Lateral meningoceles were first described by Lehman et al. [(1977); J Pediatr 90: 49-54] in a patient with other skeletal findings and distinctive craniofacial features. Subsequently, six more patients with the so-called lateral meningocele syndrome (LMS) have been reported. We describe the findings in three new cases and expand the phenotype. The existence of an affected mother and daughter supports the hypothesis that LMS is a dominant disorder affecting primarily the connective tissue. (c) 2005 Wiley-Liss, Inc.

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Year:  2005        PMID: 15666314     DOI: 10.1002/ajmg.a.30526

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  7 in total

1.  Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.

Authors:  Karen W Gripp; Katherine M Robbins; Nara L Sobreira; P Dane Witmer; Lynne M Bird; Kristiina Avela; Outi Makitie; Daniela Alves; Jacob S Hogue; Elaine H Zackai; Kimberly F Doheny; Deborah L Stabley; Katia Sol-Church
Journal:  Am J Med Genet A       Date:  2014-11-13       Impact factor: 2.802

2.  Lateral sacral meningocele presenting as a gluteal mass: a case report.

Authors:  Afsoun Seddighi; Amir Saied Seddighi
Journal:  J Med Case Rep       Date:  2010-03-05

3.  Lateral meningocele with asymmetric canal stenosis: A case study.

Authors:  Gohar Mushtaq; Iqbal Hussain; Jalaluddin A Khan; Mohammad A Kamal
Journal:  Saudi J Biol Sci       Date:  2014-09-08       Impact factor: 4.219

Review 4.  Management of lateral meningocele syndrome in a child without neurological symptoms and literature review.

Authors:  Yong Han; Min Chen; Hangzhou Wang
Journal:  Childs Nerv Syst       Date:  2022-02-07       Impact factor: 1.475

Review 5.  Neurological manifestations of Ehlers-Danlos syndrome(s): A review.

Authors:  Marco Castori; Nicol C Voermans
Journal:  Iran J Neurol       Date:  2014-10-06

6.  Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome.

Authors:  Emanuele Micaglio; Andreea Alina Andronache; Paola Carrera; Michelle M Monasky; Emanuela T Locati; Barbara Pirola; Silvia Presi; Mario Carminati; Maurizio Ferrari; Alessandro Giamberti; Carlo Pappone
Journal:  Int J Mol Sci       Date:  2019-12-11       Impact factor: 5.923

Review 7.  The Skeleton of Lateral Meningocele Syndrome.

Authors:  Ernesto Canalis
Journal:  Front Genet       Date:  2021-01-14       Impact factor: 4.599

  7 in total

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