[Chromosome X-linked mental retardation and marfanoid syndrome].
In the present paper we report two pairs of slightly to moderately mentally retarded brothers with Marfanoid habitus and similar craniofacial changes. They had a long and narrow face, small mandible, high-arched palate and hypernasal voice, as previously reported by Lujan et al. (1984) in 4 mentally retarded males of a large kindred. The present data suggest the existence of a specific type of X-linked mental retardation with Marfanoid habitus.
Fryns
J P
JP
Centre for Human Genetics, University of Leuven.
Buttiens
M
M
van den Berghe
H
H
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D005147:Facial Bones / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013577:Syndrome; D014960:X Chromosome
Retard mental lié au chromosome X et syndrome marfanoïde.