Literature DB >> 21119827

Ehlers-Danlos syndrome associated with cleft lip and palate.

Pearlie Ww Tan1, Colin Song, Donald Lalonde.   

Abstract

Ehlers-Danlos syndrome (EDS) is a hereditary connective tissue disorder caused by abnormal collagen synthesis and presents with classic features of hyperextensibility, fragility of skin and joint hypermobility. It has not been commonly described as being associated with cleft lip and/or palate, and a literature search has disclosed only one case (1984) of type IV EDS with cleft lip and palate. The authors have seen another case of EDS associated with cleft lip and palate. The etiology and clinical features of this syndrome are discussed alongside the clinical picture of cleft lip and palate.

Entities:  

Keywords:  Cleft lip and palate; Ehlers-Danlos Syndrome

Year:  2009        PMID: 21119827      PMCID: PMC2827283     

Source DB:  PubMed          Journal:  Can J Plast Surg        ISSN: 1195-2199


  7 in total

1.  Ehlers-Danlos syndrome.

Authors:  R E Pyeritz
Journal:  N Engl J Med       Date:  2000-03-09       Impact factor: 91.245

2.  Ehlers-Danlos syndrome--a historical review.

Authors:  Liakat A Parapia; Carolyn Jackson
Journal:  Br J Haematol       Date:  2008-04       Impact factor: 6.998

3.  Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Authors:  P Beighton; A De Paepe; B Steinmann; P Tsipouras; R J Wenstrup
Journal:  Am J Med Genet       Date:  1998-04-28

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

Authors:  H Okamura; Y Matsumoto
Journal:  J Laryngol Otol       Date:  1984-03       Impact factor: 1.469

Review 5.  Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders.

Authors:  Anne De Paepe; Fransiska Malfait
Journal:  Br J Haematol       Date:  2004-12       Impact factor: 6.998

6.  Retrospective review of Stickler syndrome patients with cleft palate 1997-2004.

Authors:  Kai H Lee; Peter Hayward
Journal:  ANZ J Surg       Date:  2008-09       Impact factor: 1.872

7.  Kabuki syndrome: underdiagnosed recognizable pattern in cleft palate patients.

Authors:  L W Burke; M C Jones
Journal:  Cleft Palate Craniofac J       Date:  1995-01
  7 in total
  1 in total

1.  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

  1 in total

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