Literature DB >> 2679091

Immotile cilia syndrome including polysplenia, situs inversus, and extrahepatic biliary atresia.

R Gershoni-Baruch1, E Gottfried, M Pery, A Sahin, A Etzioni.   

Abstract

Here we report on 2 sibs with immotile cilia syndrome (ICS), born to consanguineous Arab parents. Both had the Kartagener triad. In addition, one sib had polysplenia and extrahepatic biliary atresia. This observation, together with other literature reports, suggests that the occurrence of ICS with polysplenia and extrahepatic biliary atresia represent the result of a single dysmorphogenetic process. It is concluded that polysplenia and extrahepatic biliary atresia are rare and unusual manifestations of ICS.

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Year:  1989        PMID: 2679091     DOI: 10.1002/ajmg.1320330320

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


  9 in total

Review 1.  Defects in the determination of left-right asymmetry.

Authors:  M P Splitt; J Burn; J Goodship
Journal:  J Med Genet       Date:  1996-06       Impact factor: 6.318

2.  Kartagener syndrome: an uncommon cause of neonatal respiratory distress?

Authors:  M Losa; D Ghelfi; E Hof; H Felix; S Fanconi
Journal:  Eur J Pediatr       Date:  1995-03       Impact factor: 3.183

3.  RPGR is mutated in patients with a complex X linked phenotype combining primary ciliary dyskinesia and retinitis pigmentosa.

Authors:  A Moore; E Escudier; G Roger; A Tamalet; B Pelosse; S Marlin; A Clément; M Geremek; B Delaisi; A-M Bridoux; A Coste; M Witt; B Duriez; S Amselem
Journal:  J Med Genet       Date:  2005-07-31       Impact factor: 6.318

4.  An unusual presentation of immotile-cilia syndrome with azoospermia: Case report and literature review.

Authors:  Ramakant Dixit; Kalpana Dixit; Savita Jindal; K V Shah
Journal:  Lung India       Date:  2009-10

Review 5.  Primary Ciliary Dyskinesia: An Update on New Diagnostic Modalities and Review of the Literature.

Authors:  Rizwana Popatia; Kenan Haver; Alicia Casey
Journal:  Pediatr Allergy Immunol Pulmonol       Date:  2014-06-01       Impact factor: 1.349

6.  Anaesthetic Management of a Patient with Synchronous Kartagener Syndrome and Biliary Atresia.

Authors:  Pınar Kendigelen; Ayşe Çiğdem Tütüncü; Şafak Emre Erbabacan; Güner Kaya; Fatiş Altındaş
Journal:  Turk J Anaesthesiol Reanim       Date:  2015-02-16

7.  Extrahepatic cholangiocyte cilia are abnormal in biliary atresia.

Authors:  Sara Karjoo; Nicholas J Hand; Lorena Loarca; Pierre A Russo; Joshua R Friedman; Rebecca G Wells
Journal:  J Pediatr Gastroenterol Nutr       Date:  2013-07       Impact factor: 2.839

8.  Heterotaxy and complex structural heart defects in a mutant mouse model of primary ciliary dyskinesia.

Authors:  Serena Y Tan; Julie Rosenthal; Xiao-Qing Zhao; Richard J Francis; Bishwanath Chatterjee; Steven L Sabol; Kaari L Linask; Luciann Bracero; Patricia S Connelly; Mathew P Daniels; Qing Yu; Heymut Omran; Linda Leatherbury; Cecilia W Lo
Journal:  J Clin Invest       Date:  2007-12       Impact factor: 14.808

9.  Cholangiocyte cilia are abnormal in syndromic and non-syndromic biliary atresia.

Authors:  Andrew S Chu; Pierre A Russo; Rebecca G Wells
Journal:  Mod Pathol       Date:  2012-02-03       Impact factor: 7.842

  9 in total

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