Derivative 11;22 (emanuel) syndrome: a case report and a review.
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ABSTRACT:
SUBMITTER: Choudhary MG
PROVIDER: S-EPMC3652044 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Publications
Derivative 11;22 (emanuel) syndrome: a case report and a review.
Choudhary Madan Gopal MG Babaji Prashant P Sharma Nitin N Dhamankar Dilip D Naregal Gururaj G Reddy Vijay Sunil VS
Case reports in pediatrics 20130418
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. ...[more]
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