Literature DB >> 3895932

The Pena-Shokeir syndrome: report of nine Dutch cases.

D Lindhout, G Hageman, F A Beemer, P F Ippel, L Breslau-Siderius, J Willemse.   

Abstract

We report on nine individuals with the Pena-Shokeir syndrome. Clinical findings are compared with data on patients from the literature. Emphasis is made on genetic background, neuropathological findings, and (in two cases) on prenatal data. Possible pathogenetic mechanisms are discussed.

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Year:  1985        PMID： 3895932     DOI： 10.1002/ajmg.1320210407

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


  4 in total

1.  Lethal olivopontoneocerebellar hypoplasia with dysmorphic features in sibs.

Authors:  I D Young; P A McKeever; M V Squier; J Grant
Journal:  J Med Genet       Date:  1992-10       Impact factor: 6.318

2.  Lethal Pena-Shokeir 1 syndrome in three male siblings.

Authors:  T Gyr; M Katz; H J Altermatt; S Braga; P Duerig; C Koenig; H Schneider
Journal:  Arch Gynecol Obstet       Date:  1992       Impact factor: 2.344

3.  Abnormal fetal muscle forces result in defects in spinal curvature and alterations in vertebral segmentation and shape.

Authors:  Rebecca A Rolfe; James H Bezer; Tyler Kim; Ahmed Z Zaidon; Michelle L Oyen; James C Iatridis; Niamh C Nowlan
Journal:  J Orthop Res       Date:  2017-05-12       Impact factor: 3.494

4.  Antenatal ultrasonography findings and magnetic resonance imaging in a case of Pena-Shokeir phenotype.

Authors:  Xuan-Hong Tomai; Thanh-Xuan Jasmine; Thanh-Hai Phan
Journal:  Ultrasound       Date:  2017-01-10
  4 in total

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