Literature DB >> 6732106

Temporal bone pathology in DiGeorge's syndrome.

I Ohtani, H F Schuknecht.   

Abstract

DiGeorge's syndrome is characterized by partial or complete absence of the parathyroid and thymus glands and is often associated with other developmental anomalies, particularly of the structures arising from the third and fourth pharyngeal pouches. The temporal bone findings in three cases of DiGeorge's syndrome are presented. Patients with this condition have a high incidence of Mondini dysplasia in both ears, sometimes with other anomalies of the external or middle ears. Hearing may range from normal to profound deafness and may manifest sensorineural, conductive, or mixed losses of varying degrees.

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Year:  1984        PMID: 6732106     DOI: 10.1177/000348948409300306

Source DB:  PubMed          Journal:  Ann Otol Rhinol Laryngol        ISSN: 0003-4894            Impact factor:   1.547


  5 in total

1.  Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.

Authors:  Shasha Huang; Dongyi Han; Yongyi Yuan; Guojian Wang; Dongyang Kang; Xin Zhang; Xiaofei Yan; Xiaoxiao Meng; Min Dong; Pu Dai
Journal:  J Transl Med       Date:  2011-09-30       Impact factor: 5.531

2.  Tissue-specific roles of Tbx1 in the development of the outer, middle and inner ear, defective in 22q11DS patients.

Authors:  Jelena S Arnold; Evan M Braunstein; Takahiro Ohyama; Andrew K Groves; Joe C Adams; M Christian Brown; Bernice E Morrow
Journal:  Hum Mol Genet       Date:  2006-04-06       Impact factor: 6.150

3.  Chimeric negative regulation of p14ARF and TBX1 by a t(9;22) translocation associated with melanoma, deafness, and DNA repair deficiency.

Authors:  Xiaohui Tan; Sarah L Anzick; Sikandar G Khan; Takahiro Ueda; Gary Stone; John J Digiovanna; Deborah Tamura; Daniel Wattendorf; David Busch; Carmen C Brewer; Christopher Zalewski; John A Butman; Andrew J Griffith; Paul S Meltzer; Kenneth H Kraemer
Journal:  Hum Mutat       Date:  2013-06-03       Impact factor: 4.878

4.  Cooperative function of Tbx1 and Brn4 in the periotic mesenchyme is necessary for cochlea formation.

Authors:  Evan M Braunstein; E Bryan Crenshaw; Bernice E Morrow; Joe C Adams
Journal:  J Assoc Res Otolaryngol       Date:  2008-01-30

5.  TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Authors:  Tsutomu Ogata; Tetsuya Niihori; Noriko Tanaka; Masahiko Kawai; Takeshi Nagashima; Ryo Funayama; Keiko Nakayama; Shinichi Nakashima; Fumiko Kato; Maki Fukami; Yoko Aoki; Yoichi Matsubara
Journal:  PLoS One       Date:  2014-03-17       Impact factor: 3.240

  5 in total

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