Literature DB >> 2297420

Temporal bone histopathologic findings in Alagille's syndrome.

T Okuno1, H Takahashi, Y Shibahara, Y Hashida, I Sando.   

Abstract

Six temporal bones obtained from four individuals with Alagille's syndrome, aged 4 months and 3, 6, and 7 years, were studied histopathologically. The external auditory canals and tympanic membranes were normal. Although the stapes, the interossicular joints, and the subarcuate fossae were slightly underdeveloped in the majority of cases, the other structures in the middle ear were almost normal. However, severe anomalies were observed in structures in the inner ear. In all cases, both the bony and membranous structures of the posterior semicircular canal were partially or totally absent, and, in three ears, those of the anterior semicircular canal were also partially absent; the lateral semicircular canal, however, was normal in all cases. The cochlea was observed to be shortened in only one case.

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Year:  1990        PMID: 2297420     DOI: 10.1001/archotol.1990.01870020093025

Source DB:  PubMed          Journal:  Arch Otolaryngol Head Neck Surg        ISSN: 0886-4470


  8 in total

1.  Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

Authors:  M Elmaleh-Bergès; C Baumann; N Noël-Pétroff; A Sekkal; V Couloigner; K Devriendt; M Wilson; S Marlin; G Sebag; V Pingault
Journal:  AJNR Am J Neuroradiol       Date:  2012-12-13       Impact factor: 3.825

2.  The Notch ligand Jagged1 is required for inner ear sensory development.

Authors:  A E Kiernan; N Ahituv; H Fuchs; R Balling; K B Avraham; K P Steel; M Hrabé de Angelis
Journal:  Proc Natl Acad Sci U S A       Date:  2001-03-20       Impact factor: 11.205

3.  Partial absence of the posterior semicircular canal in Alagille syndrome: CT findings.

Authors:  Bernadette Koch; Amy Goold; John Egelhoff; Corning Benton
Journal:  Pediatr Radiol       Date:  2006-06-08

4.  Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.

Authors:  C Le Caignec; M Lefevre; J J Schott; A Chaventre; M Gayet; C Calais; J P Moisan
Journal:  Am J Hum Genet       Date:  2002-05-17       Impact factor: 11.025

5.  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

6.  Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes.

Authors:  Erik Engelen; Umut Akinci; Jan Christian Bryne; Jun Hou; Cristina Gontan; Maaike Moen; Dorota Szumska; Christel Kockx; Wilfred van Ijcken; Dick H W Dekkers; Jeroen Demmers; Erik-Jan Rijkers; Shoumo Bhattacharya; Sjaak Philipsen; Larysa H Pevny; Frank G Grosveld; Robbert J Rottier; Boris Lenhard; Raymond A Poot
Journal:  Nat Genet       Date:  2011-05-01       Impact factor: 38.330

7.  Requirement for Jagged1-Notch2 signaling in patterning the bones of the mouse and human middle ear.

Authors:  Camilla S Teng; Hai-Yun Yen; Lindsey Barske; Bea Smith; Juan Llamas; Neil Segil; John Go; Pedro A Sanchez-Lara; Robert E Maxson; J Gage Crump
Journal:  Sci Rep       Date:  2017-05-31       Impact factor: 4.379

Review 8.  Neuroradiological findings in Alagille syndrome.

Authors:  Alessandra D'Amico; Teresa Perillo; Renato Cuocolo; Lorenzo Ugga; Fabiola Di Dato; Ferdinando Caranci; Raffaele Iorio
Journal:  Br J Radiol       Date:  2021-10-05       Impact factor: 3.039

  8 in total

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