title: [The MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia and Adducted thumbs), is it heterogeneous?].
abstract: 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.
authors.affiliation: Institut de Puériculture, Strasbourg.
authors.forename: C
authors.initials: C
authors.lastname: Stoll
authors.forename: Y
authors.initials: Y
authors.lastname: Alembik
authors.forename: M
authors.initials: M
authors.lastname: Pfindel
authors.forename: A
authors.initials: A
authors.lastname: Chauvin
authors.forename: A
authors.initials: A
authors.lastname: Hanauer
mesh_terms: 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