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Sahebalzamani, Afsaneh
- Mandibuloacral Dysplasia with Type A Lipodystrophy ( MADA) in A 16 year-old Iranian Girl
Abstract Views :165 |
PDF Views:46
Authors
Affiliations
1 Welfare Organization,, IR
2 Molecular Genetic Diagnosis Lab, Special Medical Center, Tehran, IR
1 Welfare Organization,, IR
2 Molecular Genetic Diagnosis Lab, Special Medical Center, Tehran, IR
Source
SMU Medical Journal, Vol 3, No 1 (2016), Pagination: 13-20Abstract
MADA is a rare syndrome characterized by premature aged appearance, and variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. The disease resulting from mutation of LMNA gene. Here we report a 16 year-old girl with joint deformities especially in the fingers&loss of fatty tissue under the skin (progeroid feature). Based on these finding MADA was suspected and LMNA gene sequencing was performed revealing a homozygous mutation in R527H.Keywords
LMNA , Mandibulo Acral Dysplasia, Lipodystrophy, R527H.Full Text
- Rett Syndrome in Two Iranian Girls
Abstract Views :387 |
PDF Views:110
Authors
Affiliations
1 Welfare Organization, Kerman, IR
1 Welfare Organization, Kerman, IR
Source
SMU Medical Journal, Vol 4, No 2 (2017), Pagination: 1-7Abstract
Rett syndrome is a disorder of early brain development characterized by developmental regression and deceleration of brain growth after a period of relatively normal developmental course. It occurs predominantly in girls. Nearly all cases of Rett syndrome caused by mutation in the methyl CPG binding protein 2 or MECP2 gene. It is characterized by developmental regression of language and motor milestones and acquired microcephaly after 7-8 months. Hallmark of Rett syndrome is repetitive hand wringingmovement and loss of purposeful and spontaneous use of hands. These finding may not appear until 2-3 year of age. Here we report two case with this syndrome from two family that confirmed by molecular analysis.Keywords
MECP2 Gene, Rett Syndrome, Developmental Regression, Hand Wringing.Full Text
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