Here we report a new case in which the clinical manifestations 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. © 1993.

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

Fabrizi G. M.;
1993-01-01

Abstract

Here we report a new case in which the clinical manifestations 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. © 1993.
1993
Marfanoid habitus; Mental retardation; Mitochondrial myopathy;
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11562/310552
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