Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities
Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and gene...
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| Format: | Article |
| Language: | English |
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Thieme Revinter Publicações
2006-09-01
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| Series: | Arquivos de Neuro-Psiquiatria |
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| Online Access: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400009&tlng=en |
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| author | Célia H. Tengan Antonio C. Antunes José R. Bauab Gilmar F. Prado Gilberto M. Manzano Alberto A. Gabbai |
| author_facet | Célia H. Tengan Antonio C. Antunes José R. Bauab Gilmar F. Prado Gilberto M. Manzano Alberto A. Gabbai |
| author_sort | Célia H. Tengan |
| collection | DOAJ |
| description | Andersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS. |
| format | Article |
| id | doaj-art-4a67e16ea94f446db8f2ca01c08f2380 |
| institution | Kabale University |
| issn | 1678-4227 |
| language | English |
| publishDate | 2006-09-01 |
| publisher | Thieme Revinter Publicações |
| record_format | Article |
| series | Arquivos de Neuro-Psiquiatria |
| spelling | doaj-art-4a67e16ea94f446db8f2ca01c08f23802025-08-20T03:36:26ZengThieme Revinter PublicaçõesArquivos de Neuro-Psiquiatria1678-42272006-09-01643a58258410.1590/S0004-282X2006000400009Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalitiesCélia H. Tengan0Antonio C. Antunes1José R. Bauab2Gilmar F. Prado3Gilberto M. Manzano4Alberto A. Gabbai5Universidade Federal de São PauloUniversidade Federal de São PauloUniversidade Federal de São PauloUniversidade Federal de São PauloUniversidade Federal de São PauloUniversidade Federal de São PauloAndersen syndrome (AS) is a rare disease characterized by the presence of periodic paralysis (PP), cardiac arrhythmia and dysmorphic abnormalities. We report herein the first Brazilian patient presenting AS who also had obesity, obstructive sleep apnea (OSA) and daytime sleepiness. Clinical and genetic evaluation of six family members demonstrated that four had dysmorphic abnormalities but none had PP or cardiac arrhythmia. Sequencing of KCNJ2 revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short stature) and OSA. Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene. OSA accompanied by dysmorphic features may be related to AS.http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400009&tlng=enperiodic paralysiscardiac arrhythmiadysmorphismobstructive sleep apnea |
| spellingShingle | Célia H. Tengan Antonio C. Antunes José R. Bauab Gilmar F. Prado Gilberto M. Manzano Alberto A. Gabbai Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities Arquivos de Neuro-Psiquiatria periodic paralysis cardiac arrhythmia dysmorphism obstructive sleep apnea |
| title | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| title_full | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| title_fullStr | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| title_full_unstemmed | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| title_short | Andersen syndrome: an association of periodic paralysis, cardiac arrhythmia and dysmorphic abnormalities |
| title_sort | andersen syndrome an association of periodic paralysis cardiac arrhythmia and dysmorphic abnormalities |
| topic | periodic paralysis cardiac arrhythmia dysmorphism obstructive sleep apnea |
| url | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000400009&tlng=en |
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