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.
Dotti, M.T., Malandrini, A., Bartolini, S., Fabrizi, G.M., Federico, A. (1993). Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression. BRAIN & DEVELOPMENT, 15(4), 291-294 [10.1016/0387-7604(93)90026-5].
Mental retardation with marfanoid syndrome: presentation of a family with different phenotypical expression
Dotti M. T.;Malandrini A.;Federico A.
1993-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/31223
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