Literature DB >> 8074147

Desbuquois syndrome complicated by obstructive sleep apnoea and cervical kyphosis.

R F Ogle1, M J Wilson, K Kozlowski, D O Sillence.   

Abstract

We present two children with Desbuquois syndrome and characteristic facial appearance, and musculoskeletal and radiological findings. Two new complications of this syndrome are obstructive sleep apnea and severe cervical kyphosis.

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Year:  1994        PMID: 8074147     DOI: 10.1002/ajmg.1320510308

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  First Report of Two Egyptian Patients with Desbuquois Dysplasia due to Homozygous CANT1 Mutations.

Authors:  Manal M Thomas; Engy A Ashaat; Ghada A Otaify; Samira Ismail; Mona L Essawi; Mohamed S Abdel-Hamid; Heba A Hassan; Sonia A Alsaiedi; Mona Aglan; Mona O El Ruby; Samia Temtamy
Journal:  Mol Syndromol       Date:  2021-07-22

2.  Synophyrs, curly eyelashes and Ptyrigium colli in a girl with Desbuquois dysplasia: a case report and review of the literature.

Authors:  Ali Al Kaissi; Klaus Klaushofer; Franz Grill
Journal:  Cases J       Date:  2009-09-15
  2 in total

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