Cardiofaciocutaneous Syndrome With Occipital Encephalocele
نویسنده
چکیده
Cardiofaciocutaneous (CFC) syndrome is a rare multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterized by growth failure, distinctive facial appearance, ectodermal abnormalities, and congenital heart defects1. Around 100 cases have been reported in literature to date. We describe here a child with features of cardiofaciocutaneous syndrome. Parental consanguinity and occipital encephalocele was present in our case; this has hitherto not been described in literature.
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تاریخ انتشار 2017