Mental retardation-epilepsy-bulbous nose: Difference between revisions
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(Created page with "{{CMG}} {{SK}} Hernandez-Aguirre Negrete syndrome ==Overview== This syndrome is characterized by major seizures, dysmorphic features (round face, bulbous nose, wide mout...") |
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{{CMG}} | {{CMG}} '''Assosciate Editor(s)-In-Chief:''' [[User: Prashanthsaddala|Prashanth Saddala M.B.B.S]] | ||
Hernandez-Aguirre Negrete syndrome | {{SK}} Hernandez-Aguirre Negrete syndrome | ||
==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]]. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. | 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.<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> | ||
This condition is likely to be transmitted as an autosomal recessive trait. | This condition is likely to be transmitted as an autosomal recessive trait. | ||
Revision as of 21:34, 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
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