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008 130622s2011 xxx||||| |||| 00| 0 eng d
040 _cH12O
041 _aspa
100 _aBarceló Mendiguchia, Ana
_91787
_b
_eOftalmología
100 _9428
_aGutiérrez Díaz, Esperanza
_eOftalmología
100 _aSánchez del Pozo, Jaime
_91156
_eEndocrinología Pediátrica
100 _aTejada Palacios, Pilar
_91437
_eOftalmología
245 0 0 _aGlaucoma hereditario asociado a displasia oculodentodigital
_h[artículo]
260 _bArchivos de la Sociedad Española de Oftalmología,
_c2011
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).
710 _9223
_aServicio de Oftalmología
710 _9446
_aServicio de Pediatría-Neonatología
856 _uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/6/pc6491.pdf
_ySolicitar documento
942 _n0
_2ddc
_cART
999 _c6491
_d6491