Literature DB >> 8574426

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome.

N Philip1, L Andrac, A Moncla, S Sigaudy, N Zanon, G Lena, M Choux.   

Abstract

We describe a 19-year-old boy who presented with facial dysmorphism, multiple lateral meningoceles, skeletal abnormalities and normal intelligence. Neurofibromatosis and Marfan syndrome were excluded. Electron microscopy of the skin showed non-specific abnormalities suggesting a connective tissue disorder. The features of this boy closely resemble those in a mother and daughter with Lehman syndrome.

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Year:  1995        PMID: 8574426     DOI: 10.1097/00019605-199510000-00011

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN: 0962-8827            Impact factor:   0.816


  6 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.  Two sisters with a syndrome of ocular, skeletal, and abdominal abnormalities (OSA syndrome).

Authors:  R Mingarelli; A Castriota Scanderbeg; B Dallapiccola
Journal:  J Med Genet       Date:  1996-10       Impact factor: 6.318

4.  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 5.  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 6.  The Skeleton of Lateral Meningocele Syndrome.

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

  6 in total

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