Mohr Syndrome: A Rare Case of orofacialdigital Syndrome Type II with Congenital Heart Disease

Prakashgouda HK Goudar ； Ravindra Joshi ； Shivaprakash V Hiremath ； Pramod Bhimrao Gai

《International Journal of Case Reports and Images (IJCRI)》 3卷2期 (2012/02) Pp. 32-35

https://doi.org/10.5348/ijcri-2012-02-94-CR-8

並列摘要

Introduction: Oral-Facial-Digital (OFD) syndrome is the collective name of a group of rare inherited syndromes characterised by malformations of the mouth, face, hands and feet. Currently, nine OFD syndromes have been identified and among them OFD I and OFD II are comparatively common. These two can be distinguished from each other with the help of skeletal Xrays and by the observation of various specific symptoms and also have different patterns of inheritance. Case Report: A case report of a female child with features of OFD II also called as Mohr syndrome is presented in this study. Comparison with all the previously determined features of Mohr syndrome was done with this case and investigations were carried. Conclusion: The report showed the confirmation of Mohr Syndrome in this child along with some uncommon features like congenital heart disease.

並列關鍵字

OFDS-Type II ； Lobulated tongue ； Triplication of great toes ； Typical facies ； Post and preaxial polydactyly