000 | 01916na a2200277 4500 | ||
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003 | H12O | ||
005 | 20180417112615.0 | ||
008 | 130622s2011 xxx||||| |||| 00| 0 eng d | ||
040 | _cH12O | ||
041 | _aspa | ||
100 |
_aBarceló Mendiguchia, Ana _91787 _b _eOftalmología |
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100 |
_9428 _aGutiérrez Díaz, Esperanza _eOftalmología |
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100 |
_aSánchez del Pozo, Jaime _91156 _eEndocrinología Pediátrica |
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100 |
_aTejada Palacios, Pilar _91437 _eOftalmología |
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245 | 0 | 0 |
_aGlaucoma hereditario asociado a displasia oculodentodigital _h[artículo] |
260 |
_bArchivos de la Sociedad Española de Oftalmología, _c2011 |
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300 | _a86(9):292-294. | ||
500 | _aFormato Vancouver: Tejada P, Eduardo YW, Gutiérrez E, Barceló A, Sánchez J. Glaucoma hereditario asociado a displasia oculodentodigital. Arch Soc Esp Oftalmol. 2011;86(9):292-4. | ||
501 | _aPMID: 21893263 | ||
504 | _aContiene 4 referencias | ||
520 | _aCASE REPORT: A newborn evaluated at 20 days old due to occasional nystagmus. Her mother had presented with oculodentodigital dysplasia (ODDD) and glaucoma. The physical examination revealed opaque micro-corneas, and horizontal nystagmus. The tonometry showed 35 mm Hg in OD and 40 mm Hg in OS and the fundus examination was normal. She had a narrow nasal bridge with narrow nostrils, and fourth and fifth finger syndactylyl in both hands. A bilateral trabeculectomy was performed with a good response. DISCUSSION: ODDD is a rare autosomal dominant disease with heterogeneous phenotype manifestations. The most frequent cause of loss of visual acuity is the glaucoma, requiring long-term follow up with periodical control of the intraocular pressure (IOP). | ||
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_9223 _aServicio de Oftalmología |
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710 |
_9446 _aServicio de Pediatría-Neonatología |
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856 |
_uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/6/pc6491.pdf _ySolicitar documento |
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_n0 _2ddc _cART |
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_c6491 _d6491 |