Paper Information

Journal:   IRANIAN JOURNAL OF PEDIATRICS   MARCH 2008 , Volume 18 , Number 1; Page(s) 75 To 78.
 
Paper: 

ELLIS VAN CREVELD SYNDROME: REPORT OF A CASE AND BRIEF LITERATURE REVIEW

 
Author(s):  SANEEIFARD H.*, AMIR HAKIMI GH.H.
 
* PEDIATRICS DIVISION, NEMAZEE HOSPITAL, SHIRAZ, I.R. IRAN
 
Abstract: 

Objective: Ellis van Creveld syndrome (EvCS) is a rare autosomal recessive (AR) disorder first described in 1940. The syndrome manifests with several skeletal, oral mucosal and dental anomalies, congenital cardiac defects and nail dysplasia. EvCs should be differentiated from other chondrodystrophies such as achondroplasia and Morquio's syndrome.

Case Presentation: A nine-year old girl was referred with short stature. In physical examination her height was 105 cm. She had normal intelligence, small teeth, abnormal crown and adontia in mandibular incisors. Other findings included bilateral postaxial polydactyly in hands, narrow thorax, hypoplastic nails in hands and feet and genu valgum.
Conclusion: Ellis van Creveld syndrome is a rare autosmal disorder with a high mortality in early life. As the condition is easily diagnosed at birth, early treatment can prevent patients from various complications and undue psychological trauma.

 
Keyword(s): POSTAXIAL POLYDACTYLY, CHONDROECTODERMAL DYSPLASIA, SKELETAL ANOMALIES
 
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