نتایج جستجو برای: microphthalmia

تعداد نتایج: 1639  

Journal: :European Journal of Endocrinology 1999

2017
E Epée D Beleho AT Bitang VA Njami C Bengondo Côme Ebana Mvogo

Hallermann-Streiff-François syndrome is a rare sporadic genetic pathology characterized by a phenotype consisting of growth retardation, ocular abnormalities, and a "bird-like head". We hereby report a case of this syndrome found in three generations of the same family - father, daughter, and grand-daughter - who presented with a short stature and facial dysmorphic features, nystagmus, cataract...

2010
Marcelo Coelho Goiato Marcela Filié Haddad Daniela Micheline Santos

Microphthalmia is regarded as an exaggerated smallness or absence of the eyeball and Retinoblastoma as the most frequent children’s eye malignant tumor, which may lead to the eyeball loss if not diagnosed early. The ocular losses are embarrassing to their carriers because they are related to the face, an area in which the sense organs, essential in the human relations, are. This paper aims at s...

Journal: :Acta Ophthalmologica Scandinavica 2009

Journal: :Güncel retina 2023

Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie recessive severe vitreoretinal dysplasia in both eyes at birth. In diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, detachment an early age. this review, disease, which ar...

Journal: :Therapeutic Advances in Rare Disease 2021

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