X-linked mental retardation with marfanoid habitus.
Here we report on two pairs of mildly 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 (Am J Med Genet 17:311-322, 1984) in four 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 Hospital, Belgium.
Buttiens
M
M
D000293:Adolescent; D000328:Adult; D004200:Diseases in Twins; D008040:Genetic Linkage; D006801:Humans; D008607:Intellectual Disability / Q000150:complications / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications / Q000235:genetics*; D014960:X Chromosome