Mental retardation-epilepsy-bulbous nose
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. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families.[1]
This condition is likely to be transmitted as an autosomal recessive trait.
References
- ↑ http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=2038&Disease_Disease_Search_diseaseGroup=epilepsy&Disease_Disease_Search_diseaseType=Pat&Disease%28s%29/group%20of%20diseases=Hernandez-Aguirre-Negrete-syndrome--Mental-retardation---epilepsy---bulbous-nose-&title=Hernandez-Aguirre-Negrete-syndrome--Mental-retardation---epilepsy---bulbous-nose-&search=Disease_Search_Simple