Morning Glory Syndrome
Mostrando 1-9 de 9 artigos, teses e dissertações.
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1. Mutations and polymorphisms analysis in PAX6 gene of patients with Aniridia and Morning Glory Syndrome / Analise de mutações e polimorfismo no gene PAX6 em pacientes com aniridia e sindrome do Morning-Glory
O gene PAX6 é o principal gene para o controle da organização do sistema ocular durante a embriogênese. Este gene pertence a uma família de reguladores de transcrição denominada PAX, sendo que seus membros compartilham um domínio funcional de 128 aminoácidos chamado de paired domain. O PAX6 é o mais bem estudado dessa família. O gene PAX6 está lo
Publicado em: 2009
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2. A ausência de mutações no gene PAX6 em três casos de síndrome de Morning Glory associada à deficiência isolada de hormônio do crescimento
A síndrome de Morning Glory (SMG) é uma displasia óptica congênita associada a anomalias craniofaciais, principalmente encefalocele basal e hipopituitarismo. Os sinais clínicos são variados e muitas vezes ocultos. O gene PAX6 está envolvido na morfogênese ocular e se expressa em vários tecidos oculares durante o desenvolvimento do sistema nervoso ce
Arquivos Brasileiros de Endocrinologia & Metabologia. Publicado em: 2008-11
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3. Poland syndrome associated with 'morning glory' syndrome (coloboma of the optic disc).
A 12 year old girl with the Poland syndrome and the 'morning glory' syndrome is described. The patient presented with absence of the left pectoralis major muscle, hypoplasia of the left arm, symbrachydactyly, and ipsilateral coloboma of the optic disc. This is the first report of the association of these two congenital anomalies.
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4. Acute morning glory syndrome: report of a case.
In 1976 a boy of 12 presented with unilateral morning glory syndrome connected with oedema of the posterior fundus and marked loss vision. The recovery was complete within a few months, with visual acuity improving to 6/4. The other eye could see 6/4 and had a normal fundus throughout.
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5. Morning glory syndrome associated with marked persistent hyperplastic primary vitreous and lens colobomas.
A case of morning glory syndrome with striking persistence of primary vitreous is presented. The hypothesis that the syndrome is an expression of abnormal closure of the embryonic fissure is substantiated by the coexistence of lens colobomas. Furthermore, the marked primary vitreous hyperplasia shows the way in which persistence of primary vitreous influence
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6. Morning glory syndrome: a histopathological study.
The clinical and histopathological findings in a case of morning glory syndrome are described. Axial optic nerve retrodisplacement into a peripapillary scleral ectasia (staphyloma), absence of fibrous lamina cribrosa, and optic nerve atrophy were associated with various other, non-inherent ocular developmental anomalies. The uninterrupted lining of the inner
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7. Morning glory syndrome: clinical and electrofunctional study of three cases.
Three cases of morning glory syndrome are described and some new electrofunctional and tomodensitometric findings are reported. The amplitude of the waves of the electroretinogram is reduced and correlates with the extension of the retinal changes. The visually evoked potentials elicited with bright flashes have normal latencies but generally subnormal ampli
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8. Basal encephalocele and morning glory syndrome.
Basal encephaloceles are often associated with other midline anomalies such as hypertelorism, broad nasal root, cleft lip, and cleft palate. Optic disc anomalies such as pallor, dysplasia, optic pit, coLoboma, and megalopapilla have been reported to occur in patients with basal encephalocele We report a case of a child with a sphenoethmoidal encephalocele an
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9. Morning glory syndrome with contractile peripapillary staphyloma.