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
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