[The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
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.


METHODS
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.


CONCLUSIONS
DNA studies suggest that the MASA syndrome is heterogeneous.
Stoll
C
C
Institut de Puériculture, Strasbourg.
Alembik
Y
Y
Pfindel
M
M
Chauvin
A
A
Hanauer
A
A
D001037:Aphasia / Q000235:genetics*; D002675:Child, Preschool; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010264:Paraplegia / Q000235:genetics*; D013577:Syndrome; D013933:Thumb / Q000002:abnormalities*; D014960:X Chromosome