Mental retardation-epilepsy-bulbous nose: Difference between revisions
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{{SI}} | |||
{{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | {{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | ||
{{SK}} Hernandez-Aguirre Negrete syndrome; | {{SK}} Hernandez-Aguirre Negrete syndrome; Intellectual deficit - epilepsy - bulbous nose. | ||
==Overview== | ==Overview== | ||
This syndrome is characterized by major [[seizures]], dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), [[pes planus]], [[psychomotor retardation]] and [[obesity]]. | This syndrome is characterized by major [[seizures]], dysmorphic features ([[round face]], [[bulbous nose]], [[wide mouth]], [[prominent philtrum]]), [[pes planus]], [[psychomotor retardation]] and [[obesity]]. | ||
This condition is likely to be transmitted as an autosomal recessive trait. | ==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.<ref>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</ref> | |||
==Pathophysiology== | |||
This condition is likely to be transmitted as an [[autosomal recessive]] trait. | |||
==References== | ==References== | ||
Latest revision as of 22:58, 29 July 2012
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.[1]
Pathophysiology
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