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Sujatha, G. P.
- Aarskog Syndrome - a Rare Case Report
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Authors
Affiliations
1 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, IN
2 Department of Pediatries, Chigateri General Hospital, Davangere, Karnataka, IN
1 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, IN
2 Department of Pediatries, Chigateri General Hospital, Davangere, Karnataka, IN
Source
Indian Journal of Public Health Research & Development, Vol 3, No 3 (2012), Pagination: 225-229Abstract
Aarskog syndrome is a rare X-linked inherited disorder characterized by short stature, multiple facial, dental, digital and urogenital abnormalities. Here is one such male patient aged 20 years who was short statured and had dysmorphic facies with lack of eruption of multiple permanent teeth. He also had shawl scrotum with low IQ. The clinical appearance was coinciding with most of the features suggested in Aarskog syndrome.
References
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- Angelman Syndrome - a Rare Case Report
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Authors
Affiliations
1 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere-577004, Karnataka,, IN
2 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004, Karnataka, IN
3 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004, Karnataka, IN
4 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004
5 Department of Pediatrics JJM medical college and Hospital Davangere 577004 Karnataka, IN
1 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere-577004, Karnataka,, IN
2 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004, Karnataka, IN
3 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004, Karnataka, IN
4 Department of Oral Medicine and Diagnostic Radiology, Bapuji Dental College and Hospital, Davangere 577004
5 Department of Pediatrics JJM medical college and Hospital Davangere 577004 Karnataka, IN
Source
Indian Journal of Public Health Research & Development, Vol 2, No 1 (2011), Pagination: 78-81Abstract
Angelman Syndrome (AS) was first described in 1965 as "puppet children "characterized by severe neurodevelopmental disability, inability to speak, abnormal motor movement, easily provoked laughter, and epilepsy. Particular mechanisms identified as leading to Angelman Syndrome include deletions of part of the maternally inherited copy of chromosome15.
Here with we report a case of 14 year old girl with Angelman syndrome who presented to the department with complain of painful teeth.
Keywords
Angelman Syndrome, Chromosome 15 Deletions, Mental Retardation, Behavioral AbnormalitiesReferences
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