title: Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression.
abstract: 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 malformations, a sister can be considered an affected carrier, whereas an older brother showed skeletal abnormalities and juvenile glaucoma. The mother had bilateral palpebral ptosis with minimal mitochondrial abnormalities at muscle biopsy.
authors.affiliation: Istituto di Scienze Neurologiche, Università di Siena, Italy.
authors.forename: M T
authors.initials: MT
authors.lastname: Dotti
authors.forename: A
authors.initials: A
authors.lastname: Malandrini
authors.forename: S
authors.initials: S
authors.lastname: Bartolini
authors.forename: G M
authors.initials: GM
authors.lastname: Fabrizi
authors.forename: A
authors.initials: A
authors.lastname: Federico
mesh_terms: D000293:Adolescent; D000328:Adult; D001706:Biopsy; D005260:Female; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000150:complications*; D008297:Male; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009132:Muscles / Q000473:pathology; D010641:Phenotype