MASA syndrome: delineation of the clinical spectrum at prepubertal age.
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.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Schrander-Stumpel
C
C
De Die-Smulders
C
C
Borghgraef
M
M
Van den Berghe
H
H
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