Archives francaises de pediatrie · 1993
[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
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Stoll C, Alembik Y, Pfindel M, Chauvin A, Hanauer A
Аннотация
BACKGROUND: MASA syndrome is the acronym for Mental retardation, Aphasia, Shuffling gait and Adducted thumbs. Linkage studies have shown linkage to markers in the Xq28 band.
CASE REPORTS: Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother.
CONCLUSION: DNA studies suggest that the MASA syndrome is heterogeneous.
CASE REPORTS: Case no. 1: Mickaël was examined at the age of 3 yr 4 mo. He was mentally retarded (IQ = 40), aphasic, and had spastic gait, moderate facial dysmorphy and adducted thumbs. His parents were normal, except that his mother had similar facial dysmorphy. His brain CT scan was normal. Case no. 2: Philippe was the elder brother of Mickaël. When examined at the age of 5 years, he had the same features as his brother. His IQ was 40. His brain-CT scan was also normal. DNA analysis with markers for the Xq28 area showed that the brothers had received different X chromosomes from their mother.
CONCLUSION: DNA studies suggest that the MASA syndrome is heterogeneous.