Literature DB >> 6699495

A case of Ehlers-Danlos syndrome associated with cleft lip and palate.

H Okamura, Y Matsumoto.   

Abstract

A case of the Ehlers-Danlos syndrome associated with cleft lip and palate is presented. This is the first reported case with cleft lip and palate. The cleft palate in our case was successfully repaired by palatoplasty (push-back operation). The aetiology, clinical features and surgical problems of this syndrome are discussed.

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Year:  1984        PMID： 6699495     DOI： 10.1017/s0022215100146626

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN： 0022-2151            Impact factor:   1.469


  3 in total

1.  Ehlers-Danlos syndrome associated with cleft lip and palate.

Authors:  Pearlie Ww Tan; Colin Song; Donald Lalonde
Journal:  Can J Plast Surg       Date:  2009

2.  The phenotypic spectrum of contiguous deletion of CYP21A2 and tenascin XB: quadricuspid aortic valve and other midline defects.

Authors:  Wuyan Chen; Mimi S Kim; Sujata Shanbhag; Andrew Arai; Carol VanRyzin; Nazli B McDonnell; Deborah P Merke
Journal:  Am J Med Genet A       Date:  2009-12       Impact factor: 2.802

3.  A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.

Authors:  Cecilia Giunta; Matthias Baumann; Christine Fauth; Uschi Lindert; Ebtesam M Abdalla; Angela F Brady; James Collins; Jahannaz Dastgir; Sandra Donkervoort; Neeti Ghali; Diana S Johnson; Ariana Kariminejad; Johannes Koch; Marius Kraenzlin; Nayana Lahiri; Bernarda Lozic; Adnan Y Manzur; Jenny E V Morton; Jacek Pilch; Rebecca C Pollitt; Gudrun Schreiber; Nora L Shannon; Glenda Sobey; Anthony Vandersteen; Fleur S van Dijk; Martina Witsch-Baumgartner; Johannes Zschocke; F Michael Pope; Carsten G Bönnemann; Marianne Rohrbach
Journal:  Genet Med       Date:  2017-06-15       Impact factor: 8.822
  3 in total

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