Open AccessDerivative 11;22 (Emanuel) Syndrome: A Case Report and A Review
Author(s) -
Madan Gopal Choudhary,
Prashant Babaji,
Nitin Sharma,
Dilip Dhamankar,
Gururaj Naregal,
Vijay Sunil Reddy
Publication year - 2013
Publication title -
case reports in pediatrics
Language(s) - English
Resource type - Journals
eISSN - 2090-6803
pISSN - 2090-6811
DOI - 10.1155/2013/237935
Subject(s) - microcephaly , medicine , pediatrics , sex organ , genetics , biology
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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