Table of Contents

HK J Paediatr (New Series)
Vol 20. No. 2, 2015

HK J Paediatr (New Series) 2015;20:105-109

Case Report

Craniofrontonasal Dysplasia: A Report of Two Chinese Families and Literature Review
顱額鼻發育異常綜合症──來自兩個中國家庭的病例報導和文獻研讀

HM Luk, IFM Lo, TMF Tong, STS Lam


Abstract

Craniofrontonasal dysplasia (CFND) is a rare X-linked developmental malformation syndrome characterised by frontonasal dysplasia and coronal craniosynostosis. We have reported two Chinese cases of CFND, one isolated and the other familial. By reviewing the literature, the clinical features and the mechanism underlying the "genetic paradox" were discussed. It is hoped that with better understanding of the pathogenesis and application of EFNB1 gene analysis, CFND can be better recognised, which in turn not only improves the management but is also important for genetic counselling.

顱額鼻發育異常(CFND)是少見的X染色體連鎖發育異常綜合症,其臨床特點是額鼻發育異常和冠狀顱。我們報導了兩例中國人CFND病例,一例偶發,另一例為家族性。通過文獻研讀,我們討論了其臨床特點和「基因悖論」下的發病機制。通過對發病機制更好的理解和EFNB1基因檢測的應用,以對CFND該病有更加深入的認識,從而能夠進一步提高治療水準,同時也有助於進行遺傳諮詢。

Keyword : Chinese; Craniofrontonasal dysplasia; EFNB1 gene; Genetic paradoxe

關鍵詞:中國人、顱額鼻發育異常、EFNB1基因、基因悖論

 
 

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