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
Link To Document :
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