Walker-Warburg Syndrome as a Rare Cause of Hypotonia
نویسندگان
چکیده
منابع مشابه
POMT2 mutations cause a-dystroglycan hypoglycosylation and Walker-Warburg syndrome
Background: Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration, which causes a cobblestone cortex. Ocular abnorma...
متن کاملWalker-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 کاملPOMT2 mutations cause alpha-dystroglycan hypoglycosylation and Walker-Warburg syndrome.
BACKGROUND Walker-Warburg syndrome (WWS) is an autosomal recessive condition characterised by congenital muscular dystrophy, structural brain defects, and eye malformations. Typical brain abnormalities are hydrocephalus, lissencephaly, agenesis of the corpus callosum, fusion of the hemispheres, cerebellar hypoplasia, and neuronal overmigration, which causes a cobblestone cortex. Ocular abnormal...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Turkish Journal of Pediatric Disease
سال: 2013
ISSN: 1307-4490
DOI: 10.12956/tjpd.2013.04