Walker Warburg syndrome associated with microphthalmos and megalophthalmos: A rare combination
نویسندگان
چکیده
منابع مشابه
Walker-Warburg syndrome.
The Walker-Warburg syndrome (WWS) is a rare autosomal recessive disorder characterized by lissencephaly, cerebellar and retinal malformations, and congenital muscular dystrophy. We report a new case of WWS identified with the aid of cranial MR and briefly review the radiologic findings of this lethal syndrome.
متن کامل3128 Warburg-Walker syndrome
PURPOSE: To assess the effect of change in pupU dianww induced by Tropicamide 0.5% on Snellen acuity and lclrcr cotmast senskivhy tn humans. METHODS: 20 eyes were ~sscssed wth the l'clli-Robson CS char1 and Sncllen chart pn-and posr-dilataGon (Tropicamide O.S%), with luminance kept at between ICUI and 1100 111x. RESULTS: Pupil dilatsdon was found to have lirde effect on SneUcn acuity: 13 eyes m...
متن کاملWalker-Warburg syndrome
Walker-Warburg Syndrome (WWS) is a rare form of autosomal recessive congenital muscular dystrophy associated with brain and eye abnormalities. WWS has a worldwide distribution. The overall incidence is unknown but a survey in North-eastern Italy has reported an incidence rate of 1.2 per 100,000 live births. It is the most severe form of congenital muscular dystrophy with most children dying bef...
متن کاملAnesthesia for a child with Walker-Warburg syndrome.
BACKGROUND AND OBJECTIVES Walker-Warburg Syndrome is a rare, autosomal recessive congenital muscular dystrophy manifested by central nervous system, eye malformations and possible multisystem involvement. The diagnosis is established by the presence of four criteria: congenital muscular dystrophy, type II lissencephaly, cerebellar malformation, and retinal malformation. Most of the syndromic ch...
متن کاملWalker-Warburg Syndrome: A Case with multiple uncommon features.
Walker-Warburg syndrome (WWS) is a rare and lethal autosomal recessive disorder, caused by defective glycosylation of α-dystroglycan that is important for muscle integrity and neuronal migration. Mutations in six genes involved in the glycosylation of α-dystroglycan (POMT1, POMT2, POMGNT1, FCMD, FKRP and LARGE) have been identified in WWS patients, and others remain under study. Prenatal diagno...
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ژورنال
عنوان ژورنال: Oman Journal of Ophthalmology
سال: 2013
ISSN: 0974-620X
DOI: 10.4103/0974-620x.116664