X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

J P Fryns; H Van Den Berghe

X-linked mental retardation with Marfanoid habitus: a changing phenotype with age?

Genet Couns. 1991;2(4):241-4.

Authors

J P Fryns¹, H Van Den Berghe

Affiliation

¹ Center for Human Genetics, University of Leuven, Belgium.

PMID: 1799424

Abstract

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.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple
Adolescent
Electroencephalography
Female
Follow-Up Studies
Genetic Testing
Humans
Intellectual Disability / diagnosis
Intellectual Disability / genetics*
Male
Marfan Syndrome / diagnosis
Marfan Syndrome / genetics*
Sex Chromosome Aberrations / diagnosis
Sex Chromosome Aberrations / genetics*
X Chromosome*