X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?
In this report, we present two further examples of X-linked mental retardation with Marfanoid habitus. Follow-up data on these two patients reveal that the clinical diagnosis of this syndrome is extremely difficult, if not impossible before puberty, as the Marfanoid habitus only becomes strikingly evident during adolescence.
Fryns
J P
JP
Center for Human Genetics, University of Leuven, Belgium.
Van Den Berghe
H
H
D000015:Abnormalities, Multiple; D000293:Adolescent; D004569:Electroencephalography; D005260:Female; D005500:Follow-Up Studies; D005820:Genetic Testing; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics*; D012729:Sex Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D014960:X Chromosome