2. Academic Validation
  3. Derivative 11;22 (emanuel) syndrome: a case report and a review

Derivative 11;22 (emanuel) syndrome: a case report and a review

  • Case Rep Pediatr. 2013;2013:237935. doi: 10.1155/2013/237935.
Madan Gopal Choudhary 1,  Prashant Babaji,  Nitin Sharma,  Dilip Dhamankar,  Gururaj Naregal,  Vijay Sunil Reddy
Affiliations

Affiliation

  • 1 Department of Pediatrics, SPMC Medical College, Bikaner, Rajasthan 334001, India.
PMID: 23691404 DOI: 10.1155/2013/237935
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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