Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

doi:10.1016/0387-7604(93)90026-5

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Article

Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.

Brain & development - 1 Jan 2000

Dotti M T, Malandrini A, Bartolini S, Fabrizi G M, Federico A

Abstract excerpt

Here we report a new case in which the clinical manifestation were compatible with the phenotype described by Lujan et al. [Am J Med Genet 1984; 17: 311-22] as 'X-linked mental retardation with marfanoid habitus'. Based upon the presence of mild psychomotor retardation, epilepsy and skeletal malf...

Topics

Adolescent
Adult
Biopsy
Female
Heterozygote
Humans
Intellectual Disability
Male
Marfan Syndrome
Middle Aged
Muscles
Phenotype

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