Literature DB >> 27815143

Chiari I malformation as part of the Floating-Harbor syndrome?

Arthur R Kurzbuch1, Shailendra Magdum2.   

Abstract

We report the first case of a patient diagnosed with Floating-Harbor syndrome (FHS) and Chiari I malformation. The 3-year-old girl was of proportional short stature, had delay of language development, conductive hearing loss and a high threshold of pain. Diagnosis of Chiari I malformation may be difficult in FHS patients who present with communication problems. Clinicians following patients with FHS should be aware of a possible relation between FHS and Chiari I malformation. Copyright Â
© 2016 Elsevier Masson SAS. All rights reserved.

Entities:  

Keywords:  Chiari I malformation; Floating-Harbor syndrome; SRCAP; Speech delay

Mesh:

Year:  2016        PMID: 27815143     DOI: 10.1016/j.ejmg.2016.10.011

Source DB:  PubMed          Journal:  Eur J Med Genet        ISSN: 1769-7212            Impact factor:   2.708


  1 in total

1.  Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Authors:  Shujie Zhang; Shaoke Chen; Haisong Qin; Haiming Yuan; Yalei Pi; Yu Yang; Hui Huang; Guimei Li; Yan Sun; Zhihua Wang; Huamei Ma; Xiaoling Fu; Ting Zhou; Jian Wang; Huifeng Zhang; Yiping Shen
Journal:  Orphanet J Rare Dis       Date:  2019-06-14       Impact factor: 4.123

  1 in total

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