WebChudley–McCullough syndrome (CMS), an autosomal recessive condition first ... hearing loss was referred to the Department of Radiology for a brain magnetic resonance imaging (MRI). He WebThe autosomal-recessively inherited disorder, Chudley- McCullough Syndrome (CMS [MIM 604213]), was first described1in Canadian siblings of Dutch-German Menno- nite (sometimes referred to as Old Colony or Chortitza Mennonite) ancestry, who presented with hydrocephalus and profound sensorineural hearing loss.
Brothers with Chudley–McCullough syndrome: Sensorineural …
WebOct 26, 2007 · Chudley McCullough syndrome is characterized by partial agenesis of the corpus callosum, interhemispheric cyst, cerebral and cerebellar cortical dysplasias, and hydrocephalus. This syndromic form of sensorineural hearing loss is rare. Our literature search has located 13 siblings in 6 families with this syndrome. WebJul 8, 2024 · The case of a 2-year-old patient with CMS confirmed by genetic testing (GPSM2 gene mutation) is described, who presented with global developmental delays and characteristic neuroimaging features including arachnoid cysts, agenesis of the corpus callosum, cerebellar dysplasia, and frontal heterotopia. Abstract Chudley–McCullough … lithium in north dakota
Chudley-McCullough Syndrome - PubMed
WebChudley-Mccullough syndrome - Getting a Diagnosis - Genetic and Rare Diseases Information Center National Center for Advancing Translational Sciences Browse by Disease About GARD Contact Us We recently launched the new GARD website and are still developing specific pages. This page is currently unavailable. WebChudley-Mccullough syndrome is a rare genetic disorder which is characterized by bilateral congenital (sometimes progressive) hearing loss associated with brain malformations. It … WebFeb 1, 2024 · Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein signaling modulator 2) gene, is characterized by early-onset sensorineural deafness and a typical combination of brain malformations, including ventriculomegaly, (partial) agenesis of the corpus callosum, cerebellar … impurity defined