title: MASA syndrome: delineation of the clinical spectrum at prepubertal age.
abstract: Here we describe the clinical and neurological findings in 2 brothers with MASA syndrome and the changes in phenotypic and neurological findings during the prepubertal period. MASA syndrome seems to be an X-linked mental retardation syndrome with progressively appearing manifestations and neurological signs, making clinical diagnosis before age 4 years difficult.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: C
authors.initials: C
authors.lastname: Schrander-Stumpel
authors.forename: C
authors.initials: C
authors.lastname: De Die-Smulders
authors.forename: M
authors.initials: M
authors.lastname: Borghgraef
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008297:Male; D010264:Paraplegia / Q000150:complications / Q000235:genetics* / Q000473:pathology; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome