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1.
Hist Sci Med ; 48(2): 209-13, 2014.
Artigo em Francês | MEDLINE | ID: mdl-25230527

RESUMO

The correspondence of Montesquieu published by the Oxford Foundation informs about visual disorders of the founder of the socio-political science. The examination of his bust's face done by J.B. Lemoyne reveals a divergent squint of the left eye; the one with which he fold that he only could see big objects. This amblyopia was a premature and prolonged embarrassment. During the last ten years of his life, from 1748, date of publication of the Esprit des lois up to his death in 1755 he was blind because of the cataract of the other eye. He has not able to bust in surgery, while the French surgeon Jacques Daviel already proceeded to the extraction of the lens as we do it nowadays.


Assuntos
Ambliopia/história , Cegueira/história , Catarata/história , Pessoas Famosas , Escultura/história , Ciências Sociais/história , França , História do Século XVIII , Humanos
2.
Am J Med Genet A ; 136A(4): 307-12, 2005 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-16001442

RESUMO

We describe a family with an X-linked dominant chondrodysplasia. Four males and six females were affected through four generations. Identification of skeletal abnormalities and hydrocephaly during the pregnancy of three male fetuses led to termination of the pregnancies. A fourth affected male died at 6 days of life. The four patients had chondrodysplasia, hydrocephaly, and facial features with microphthalmia. Radiographs showed severe platyspondyly and various bone abnormalities including a distinctive metaphyseal cupping of the metacarpals, metatarsals, and phalanges. The affected females were less affected and showed small stature, sometimes associated with body asymmetry and mild mental retardation. This condition appears to be a previously unrecognized X-linked dominant chondrodysplasia.


Assuntos
Genes Dominantes , Doenças Genéticas Ligadas ao Cromossomo X/genética , Hidrocefalia/patologia , Deformidades Congênitas dos Membros/patologia , Osteocondrodisplasias/genética , Aborto Eugênico , Cromossomos Humanos X/genética , Saúde da Família , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/genética , Doenças Genéticas Ligadas ao Cromossomo X/patologia , Ligação Genética , Predisposição Genética para Doença/genética , Humanos , Masculino , Microftalmia/patologia , Repetições de Microssatélites , Osteocondrodisplasias/patologia , Linhagem , Gravidez , Diagnóstico Pré-Natal
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