Moebius Syndrome
Mostrando 1-9 de 9 artigos, teses e dissertações.
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1. Caracterização das alterações dento-faciais em crianças portadoras da sequência de Moebius / Dentofacial alterations in children with Möebius sequence
Os objetivos deste estudo foram avaliar os possíveis reflexos das anomalias detectadas na funcionalidade da cavidade oral e avaliar a saúde bucal dos pacientes portadores da Seqüência de Moebius. Na avaliação odontopediátrica foram examinados 42 pacientes do Ambulatório de Neuropediatria do ICr/HCFMUSP, 17 meninos e 25 meninas, entre 2 meses e 17 ano
Publicado em: 2009
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2. "Estudo de mutações nos genes HOXA1 e HOXB1 em pacientes com síndrome de Moebius" / Mutational analysis study of HOXA1 and HOXB1 in MOEBIUS SYNDROME patients
The Moebius Syndrome is characterized by the absence of facial and eyes mobility due to the underdevelopment of facial nerves and muscles causing a face-like mask in the compromised patients. The primary cause still need to be identified, however, different hypothesis have been established including a possible genetic alteration. The HOXB1 gene, located in t
Publicado em: 2007
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3. "Estudo das manifestações crânio faciais de pacientes portadores da síndrome de Moébius - aspectos clínicos e terapêuticos" / Study of the cranio facial manifestations of patients whit Moébius syndrome
A síndrome de Moebius é caracterizada pela agenesia ou aplasia dos VI e VII pares de nervos cranianos, mal formação membros e em alguns casos oligofrenia. Como consequência dessa agenesia ou aplasia de alguns nervos cranianos, a musculatura facial é alterada e o crescimento facial ocorre de maneira atípica, provocando importantes problemas funcionais.
Publicado em: 2005
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4. Deletion of chromosome 13 in Moebius syndrome.
A girl aged 2 1/2 years with Moebius syndrome was found to have a deletion of band q12.2 in chromosome 13 (46,XX,del(13)(q12.2]. This is the second report concerning involvement of chromosome 13q and Moebius syndrome. The observation raises the possibility that a gene responsible for Moebius syndrome is located in this region of chromosome 13.
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5. Moebius' syndrome with unilateral cerebellar hypoplasia.
A case is reported of a child with Moebius' syndrome who also has unilateral cerebellar hypoplasia. We suggest that this combination of abnormalities could result from a vascular disruption occurring in the basilar artery early in its development.
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6. Moebius syndrome.
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7. Observations on the pathology of the Moebius syndrome
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8. The Moebius syndrome: aetiology, incidence of mental retardation, and genetics.
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9. Molecular cloning and expression of the human Δ7-sterol reductase
Inhibitors of the last steps of cholesterol biosynthesis such as AY9944 and BM15766 severely impair brain development. Their molecular target is the Δ7-sterol reductase (EC 1.3.1.21), suspected to be defective in the Smith–Lemli–Opitz syndrome, a frequent inborn disorder of sterol metabolism. Molecular cloning of the cDNA revealed that the human enzyme
The National Academy of Sciences.