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Derivative 11;22 (emanuel) syndrome: a case report and a review
Madan Gopal Choudhary1, Prashant Babaji, Nitin Sharma
1Department of Pediatrics, SPMC Medical College, Bikaner, Rajasthan 334001, India.
Abstract:
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital anomalies in boys. Here, we report a male neonate, with the classical features of Emanuel syndrome.
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