Literature DB >> 9188658

Lateral meningocele syndrome: three new patients and review of the literature.

K W Gripp1, C I Scott, H E Hughes, R Wallerstein, L Nicholson, L States, L D Bason, P Kaplan, S A Zderic, A C Duhaime, F Miller, M R Magnusson, E H Zackai.   

Abstract

One female and two male patients with multiple lateral meningoceles are presented. They do not have neurofibromatosis or Marfan syndrome and share findings with the two previously described patients with multiple lateral meningoceles. The original report by Lehman et al. [1977: J Pediatr 90:49-54] was titled "familial osteosclerosis," because osteosclerosis was present in the proposita and her mother; the patient described by Philip et al. [1995: Clin Dysmorphol 4:347-351] also had increased bone density of the skull base and the sutures. Thickened calvaria were present in one of our patients; two had a prominent metopic suture. Other shared findings include multiple lateral meningoceles, Wormian bones, malar hypoplasia, downslanted palpebral fissures, a high narrow palate, and cryptorchidism in males. In addition, our patients showed ligamentous laxity, keloid formation, hypotonia, and developmental delay. A short umbilical cord was noted in two patients. One had a hypoplastic posterior arch of the atlas and an enlarged sella, as reported by Lehman et al. [1977]. Our patients appear to have the same syndrome as previously reported. We suggest it be called "lateral meningocele syndrome," because of this unique finding.

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Year:  1997        PMID: 9188658

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  15 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

Review 2.  Notch and the regulation of osteoclast differentiation and function.

Authors:  Jungeun Yu; Ernesto Canalis
Journal:  Bone       Date:  2020-06-08       Impact factor: 4.398

3.  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

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.  Notch in skeletal physiology and disease.

Authors:  E Canalis
Journal:  Osteoporos Int       Date:  2018-09-07       Impact factor: 4.507

Review 6.  Notch Signaling and the Skeleton.

Authors:  Stefano Zanotti; Ernesto Canalis
Journal:  Endocr Rev       Date:  2016-04-13       Impact factor: 19.871

Review 7.  Clinical and experimental aspects of notch receptor signaling: Hajdu-Cheney syndrome and related disorders.

Authors:  Ernesto Canalis
Journal:  Metabolism       Date:  2017-08-24       Impact factor: 8.694

8.  An antibody to Notch3 reverses the skeletal phenotype of lateral meningocele syndrome in male mice.

Authors:  Jungeun Yu; Christian W Siebel; Lauren Schilling; Ernesto Canalis
Journal:  J Cell Physiol       Date:  2019-06-12       Impact factor: 6.384

9.  The lateral meningocele syndrome mutation causes marked osteopenia in mice.

Authors:  Ernesto Canalis; Jungeun Yu; Lauren Schilling; Siu-Pok Yee; Stefano Zanotti
Journal:  J Biol Chem       Date:  2018-07-24       Impact factor: 5.157

10.  Bilateral multiple level lateral meningocoele.

Authors:  B E Panil Kumar; Kishor V Hegde; G Lalitha Kumari; Amit Agrawal
Journal:  J Clin Imaging Sci       Date:  2013-01-30
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