WebJul 9, 2012 · Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain … WebOct 4, 2024 · Chudley–McCullough syndrome (CMS) is an autosomal recessive condition first described in 1997. The most striking features of this syndrome include sensorineural hearing loss, craniofacial ...

Chudley-Mccullough syndrome - About the Disease

WebChudley-McCullough syndrome is a rare, genetic, syndromic deafness characterized by severe to profound, bilateral, sensorineural hearing loss (congenital or rapidly progressive in infancy) associated with a complex brain malformation including hydrocephalus, varying degrees of partial corpus callosum agenesis, colpocephaly, cerebral and … WebJul 1, 2024 · Chudley-McCullough Syndrome (CMS) is an autosomal recessive disorder first described in 1997 with the gene responsible, GPSM2, being discovered in 2012 [1], [5]. With more patients being diagnosed with CMS, a distinct clinical phenotype of sensorineural hearing loss, partial agenesis of the corpus callosum, frontal polymicrogyria, gray matter ... north face backpack on clearance

Chudley-McCullough Syndrome: A Recognizable Clinical Entity ...

WebChudley-McCullough syndrome (CMS) is an autosomal recessive condition characterized by sensorineural hearing loss, near normal development, and a distinctive combination of brain malformations: partial agenesis of the … WebDec 5, 2024 · Chudley-McCullough syndrome is an autosomal recessive neurologic disorder characterized by early-onset sensorineural deafness and specific brain anomalies on MRI, including hypoplasia of the corpus callosum, enlarged cysterna magna with mild focal cerebellar dysplasia, and nodular heterotopia. Some patients have hydrocephalus. WebChudley–McCullough syndrome (CMS), an autosomal recessive condition first reported by Chudley et al., in 1997, comprises profound sensorineural hearing loss and specific brain abnormalities. how to save a word document as rtf