Walker-Warburg syndrome
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Walker-Warburg syndrome (WWS) (sometimes known as HARDE syndrome) is an extremely rare lethal form of congenital muscular dystrophy. It is primarily characterised by
- fetal hydrocephalus : almost always present
- neural migrational anomalies : agyria (cobblestone lissencephaly / lissencephaly type II)
- Dandy Walker continuum
- retinal dysplasia
- encephalocoele
- cerebellar malformations
- congenital muscular dystrophy
Additional anomalies include
- agenesis of the corpus callosum
- microphthalmia
- ocular colobomas
- microtia
- congenital cataracts
- genital anomalies in males
- cleft lip + / - palate
Pathology
Genetics
It is considered by many to be inherited in an autosomal recessive manner.
EtymologyHistory and etymology
InitiallyIt was initially described by Warburg et.al in 1971
Treatment and prognosis
The overall prognosis is poor with most infants dying within the 1st year of life. There is no specific treatment and management is mainly supportive.
-</ul><h4>Pathology</h4><h5>Genetics</h5><p>It is considered by many to be inherited in an autosomal recessive manner.</p><h4>Etymology</h4><p>Initially described by <strong>Warburg</strong> et.al in 1971</p><h4>Treatment and prognosis</h4><p>The overall prognosis is poor with most infants dying within the 1<sup>st </sup>year of life. There is no specific treatment and management is mainly supportive.</p>- +</ul><h4>Pathology</h4><h5>Genetics</h5><p>It is considered by many to be inherited in an autosomal recessive manner.</p><h4>History and etymology</h4><p>It was initially described by <strong>Warburg</strong> et.al in 1971</p><h4>Treatment and prognosis</h4><p>The overall prognosis is poor with most infants dying within the 1<sup>st </sup>year of life. There is no specific treatment and management is mainly supportive.</p>