Literature DB >> 12802522

Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review.

R S Ryan1, S O Myckatyn, G D Reid, P Munk.   

Abstract

We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition.

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Year:  2003        PMID: 12802522     DOI: 10.1007/s00256-003-0651-z

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN: 0364-2348            Impact factor:   2.199


  7 in total

1.  Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1.

Authors:  L Li; I D Krantz; Y Deng; A Genin; A B Banta; C C Collins; M Qi; B J Trask; W L Kuo; J Cochran; T Costa; M E Pierpont; E B Rand; D A Piccoli; L Hood; N B Spinner
Journal:  Nat Genet       Date:  1997-07       Impact factor: 38.330

Review 2.  Alagille syndrome.

Authors:  I D Krantz; D A Piccoli; N B Spinner
Journal:  J Med Genet       Date:  1997-02       Impact factor: 6.318

Review 3.  Alagille syndrome today.

Authors:  D Alagille
Journal:  Clin Invest Med       Date:  1996-10       Impact factor: 0.825

4.  Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients.

Authors:  Evelyn Sanderson; Vanessa Newman; Susan F Haigh; Alastair Baker; Paul S Sidhu
Journal:  Pediatr Radiol       Date:  2001-12-15

5.  Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases.

Authors:  T Berrocal; E Gamo; J Navalón; C Prieto; I Al-Assir; P Cortés; I Pastor; L Hierro
Journal:  Eur Radiol       Date:  1997       Impact factor: 5.315

6.  [Butterfly vertebrae and scoliosis: Alagille syndrome].

Authors:  R Przkora; A Schmitz; L Perlick; R Koenig; U Jaeger; O Schmitt
Journal:  Z Orthop Ihre Grenzgeb       Date:  2002 Mar-Apr

7.  Aortic calcification and renal cysts demonstrated by CT in a teenager with Alagille syndrome.

Authors:  F Pombo; C Isla; A Gayol; A Bargiela
Journal:  Pediatr Radiol       Date:  1995
  7 in total
  4 in total

1.  Pathologic lower extremity fractures in children with Alagille syndrome.

Authors:  Christina B Bales; Binita M Kamath; Pedro S Munoz; Alexander Nguyen; David A Piccoli; Nancy B Spinner; David Horn; Justine Shults; Mary B Leonard; Adda Grimberg; Kathleen M Loomes
Journal:  J Pediatr Gastroenterol Nutr       Date:  2010-07       Impact factor: 2.839

Review 2.  Alagille syndrome: pathogenesis, diagnosis and management.

Authors:  Peter D Turnpenny; Sian Ellard
Journal:  Eur J Hum Genet       Date:  2011-09-21       Impact factor: 4.246

3.  Alagille syndrome case report: implications for forensic pathology and anthropology.

Authors:  Anja Petaros; Damir Miletic; Sanja Stifter; Mario Slaus; Valter Stemberga
Journal:  Int J Legal Med       Date:  2014-09-07       Impact factor: 2.686

Review 4.  Alagille Syndrome: Diagnostic Challenges and Advances in Management.

Authors:  Mohammed D Ayoub; Binita M Kamath
Journal:  Diagnostics (Basel)       Date:  2020-11-06
  4 in total

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