• DocumentCode
    3425205
  • Title

    Apert syndrome: A case report

  • Author

    Feiyong Jia ; Huiyi Jiang ; Lin Du ; Chunbo Niu

  • Author_Institution
    Dept. of Pediatrics, First Hosp. of Jilin Univ., Changchun, China
  • fYear
    2011
  • fDate
    19-22 Aug. 2011
  • Firstpage
    150
  • Lastpage
    152
  • Abstract
    Apert syndrome is a rare congenital type I acrocephalosyndanctyly syndrome, characterized by craniosynostosis, severe syndactyly of the hands and feet, symphalangism and dysmorphic facial features. Here we reported one case of Apert syndrome and reviewed the literature. This patient presented with the clinical triad that characterized Apert syndrome: brachycephalic skull, midface hypoplasia and syndactyly of feet. Bayley infantile development scale manifested low intellectual score in this case. Rehabilitation therapies such as physical therapy, occupational therapy and speech therapy were introduced to promote the development of motor and intelligence. One and half years follow-up showed that the patient could walk independently without abnormal gait, and the intellectual condition was improved. The aim is to alert pediatricians and surgeons about the early diagnosis and appropriate treatment may improve the quality of life and the prognosis of Apert syndrome.
  • Keywords
    bone; brain; diseases; paediatrics; patient diagnosis; patient rehabilitation; patient treatment; skin; Apert syndrome; Bayley infantile development scale; brachycephalic skull; congenital type I acrocephalosyndanctyly syndrome; craniosynostosis; dysmorphic facial feature; early diagnosis; feet; hands; intelligence; midface hypoplasia; motor development; occupational therapy; pediatrician; physical therapy; prognosis; rehabilitation therapy; severe syndactyly; speech therapy; symphalangism; Delay; Dentistry; Facial features; Pediatrics; Pregnancy; Teeth; Apert syndrome; craniosynostosis; syndactyly;
  • fLanguage
    English
  • Publisher
    ieee
  • Conference_Titel
    Human Health and Biomedical Engineering (HHBE), 2011 International Conference on
  • Conference_Location
    Jilin
  • Print_ISBN
    978-1-61284-723-8
  • Type

    conf

  • DOI
    10.1109/HHBE.2011.6027920
  • Filename
    6027920