منابع مشابه
Anophthalmia and microphthalmia
Anophthalmia and microphthalmia describe, respectively, the absence of an eye and the presence of a small eye within the orbit. The combined birth prevalence of these conditions is up to 30 per 100,000 population, with microphthalmia reported in up to 11% of blind children. High-resolution cranial imaging, post-mortem examination and genetic studies suggest that these conditions represent a phe...
متن کاملMicrophthalmia and the Visual Pathways
1866 to July, 1867.-Surgeon-General Sir 'William Guyer Hunter, M.D., F.R.C.S.E. July, 1867 to January, 1872.-Major J. H. Sylvester, M.R.C.S., F.G.C. January 28, 1872 to May 31, 1895.-Brigade Surgeon Lt.-Col. George Archibald Maconachie, M.D., C.M. (Aber.). June 1, 1895 to April 19, 1907.-Lt.-Col. H. Herbert, I.M.S. April 20, 1907 to February 28, 1914.-Lt.-Col. P. P. IKilkelly, M.B., I.M.S. Marc...
متن کاملA case of Lenz microphthalmia syndrome.
Lenz microphthalmia syndrome was first described by Lenz et al in 1955. The cardinal features of the syndrome are microphthalmia or anophthalmos, narrow shoulders, other skeletal anomalies, and dental and urogenital malformations. Here we present a case of Lenz microphthalmia syndrome who shows the typical characteristics and, additionally, dysgenesis of the corpus callosum associated with dila...
متن کاملVSX2 mutations in autosomal recessive microphthalmia
PURPOSE To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalmia/microphthalmia) for mutations in VSX2. RESULTS Homozygous mutations in VSX2 were identified ...
متن کاملMicrophthalmia with single central incisor and hypopituitarism.
A patient is described with a new association of microphthalmia, single central incisor, and hypopituitarism believed to represent a holoprosencephaly malformation. In view of the genetic ramifications of this malformation and its variable manifestations, we would like to alert the clinician to consider holoprosencephaly whenever midline malformations are detected.
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1926
ISSN: 0007-1161
DOI: 10.1136/bjo.10.12.625