Mental retardation-epilepsy-bulbous nose

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Assosciate Editor(s)-In-Chief: Prashanth Saddala M.B.B.S

Synonyms and keywords: Hernandez-Aguirre Negrete syndrome; Intellectual deficit - epilepsy - bulbous nose.

Overview

This syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity.

Historical Perspective

It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.

Pathophysiology

This condition is likely to be transmitted as an autosomal recessive trait.