Literature DB >> 23345474

Osteogenesis imperfecta and congenital diaphragmatic hernia.

Shamik Dholakia1, Stuart Cleeve.   

Abstract

Osteogenesis imperfecta and congenital diaphragmatic hernia are both conditions that can occur due to genetic mutation. We present the first case to be reported of a child with both osteogenesis imperfecta and congenital diaphragmatic hernias, showing that the incidence of this presentation may be more than chance.

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Year:  2013        PMID: 23345474      PMCID: PMC3604350          DOI: 10.1136/bcr-2012-007341

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  9 in total

1.  Congenital diaphragmatic hernia in Smith-Magenis syndrome: a possible locus at chromosome 17p11.2.

Authors:  E F Sanford; K Bermudez-Wagner; L J B Jeng; K A Rauen; Anne M Slavotinek
Journal:  Am J Med Genet A       Date:  2011-09-30       Impact factor: 2.802

2.  Recurrent congenital diaphragmatic hernia in Ehlers-Danlos syndrome.

Authors:  I Chun Lin; Sheung Fat Ko; Chie Song Shieh; Chien Fu Huang; Shao Ju Chien; Chi Di Liang
Journal:  Cardiovasc Intervent Radiol       Date:  2006 Sep-Oct       Impact factor: 2.740

Review 3.  Osteogenesis imperfecta:epidemiology and pathophysiology.

Authors:  Elizabeth Martin; Jay R Shapiro
Journal:  Curr Osteoporos Rep       Date:  2007-09       Impact factor: 5.096

Review 4.  Osteogenesis Imperfecta: update on presentation and management.

Authors:  Moira S Cheung; Francis H Glorieux
Journal:  Rev Endocr Metab Disord       Date:  2008-04-11       Impact factor: 6.514

Review 5.  Treatment of osteogenesis imperfecta: who, why, what?

Authors:  Francis H Glorieux
Journal:  Horm Res       Date:  2007-12-10

Review 6.  [Hernias as medical disease].

Authors:  Jakob Burcharth; Jacob Rosenberg
Journal:  Ugeskr Laeger       Date:  2008-10-13

Review 7.  Surgical treatment of osteogenesis imperfecta: current concepts.

Authors:  Paul Esposito; Horacio Plotkin
Journal:  Curr Opin Pediatr       Date:  2008-02       Impact factor: 2.856

8.  Strangulated diaphragmatic hernia in a patient with osteogenesis imperfecta.

Authors:  P A Spence; Z Cohen; T A Salerno
Journal:  Can Med Assoc J       Date:  1984-12-01       Impact factor: 8.262

Review 9.  Congenital diaphragmatic hernia and retinoids: searching for an etiology.

Authors:  Sandra Montedonico; Nana Nakazawa; Prem Puri
Journal:  Pediatr Surg Int       Date:  2008-04-10       Impact factor: 1.827

  9 in total

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