Literature DB >> 11314717

Temporal bone pathology in Cornelia de Lange syndrome.

S Yamanobe1, I Ohtani.   

Abstract

OBJECTIVE: This study aimed to demonstrate the temporal bone histopathology of Cornelia de Lange syndrome. STUDY
DESIGN: Histopathologic examination of an infant with this syndrome.
SETTING: This study was performed at the temporal bone laboratory. Fukushima Medical University, Fukushima.
RESULTS: The authors describe interesting temporal bone findings of this syndrome: anomalies of the middle and inner ear and the facial nerves.
CONCLUSIONS: This is the second case report describing the histologic findings of the temporal bone in Cornelia de Lange syndrome in the English literature.

Entities:  

Mesh:

Year:  2001        PMID: 11314717     DOI: 10.1097/00129492-200101000-00011

Source DB:  PubMed          Journal:  Otol Neurotol        ISSN: 1531-7129            Impact factor:   2.311


  3 in total

1.  Neuroimaging features of Cornelia de Lange syndrome.

Authors:  Matthew T Whitehead; Usha D Nagaraj; Phillip L Pearl
Journal:  Pediatr Radiol       Date:  2015-02-21

2.  Temporal bone CT findings in Cornelia de Lange syndrome.

Authors:  J Kim; E Y Kim; J S Lee; W S Lee; H N Kim
Journal:  AJNR Am J Neuroradiol       Date:  2007-12-07       Impact factor: 3.825

3.  Multifactorial origins of heart and gut defects in nipbl-deficient zebrafish, a model of Cornelia de Lange Syndrome.

Authors:  Akihiko Muto; Anne L Calof; Arthur D Lander; Thomas F Schilling
Journal:  PLoS Biol       Date:  2011-10-25       Impact factor: 8.029

  3 in total

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