Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

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,...

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Detalles Bibliográficos
Autores principales: Choudhary, Madan Gopal, Babaji, Prashant, Sharma, Nitin, Dhamankar, Dilip, Naregal, Gururaj, Reddy, Vijay Sunil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3652044/
https://www.ncbi.nlm.nih.gov/pubmed/23691404
http://dx.doi.org/10.1155/2013/237935
Descripción
Sumario: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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