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Chudley McCullough syndrome.
Nadkarni TD, Menon RK, Shah AH, Goel A. Nadkarni TD, et al. Childs Nerv Syst. 2008 May;24(5):541-4. doi: 10.1007/s00381-007-0518-z. Epub 2007 Oct 26. Childs Nerv Syst. 2008. PMID: 17962956 Review.
BACKGROUND: Chudley McCullough syndrome is characterized by partial agenesis of the corpus callosum, interhemispheric cyst, cerebral and cerebellar cortical dysplasias, and hydrocephalus. ...Neuroimaging revealed partial agenesis of the corpus callosum, colpo …
BACKGROUND: Chudley McCullough syndrome is characterized by partial agenesis of the corpus callosum, interhemispheric c …
Chudley-McCullough Syndrome: A Recognizable Clinical Entity Characterized by Deafness and Typical Brain Malformations.
Blauen A, Stutterd CA, Stouffs K, Dumitriu D, Deggouj N, Lockhart PJ, Leventer RJ, Nassogne MC, Jansen AC. Blauen A, et al. J Child Neurol. 2021 Feb;36(2):152-158. doi: 10.1177/0883073820960314. Epub 2020 Oct 4. J Child Neurol. 2021. PMID: 33016209
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 …
Chudley-McCullough syndrome, a rare autosomal recessive disorder due to pathogenic variants in the GPSM2 (G-protein sig …
Prenatal diagnosis of Chudley-McCullough syndrome.
Chapman T, Perez FA, Ishak GE, Doherty D. Chapman T, et al. Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17. Am J Med Genet A. 2016. PMID: 27312216 Free PMC article.
Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. ...
Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and …
Magnetic Resonance Imaging of Malformations of Midbrain-Hindbrain.
Abdel Razek AA, Castillo M. Abdel Razek AA, et al. J Comput Assist Tomogr. 2016 Jan-Feb;40(1):14-25. doi: 10.1097/RCT.0000000000000340. J Comput Assist Tomogr. 2016. PMID: 26599961 Review.
The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosynapsis, global cerebellar hypoplasia reported in lissencephaly and microlissencephaly, and unilateral cerebellar hypoplasia seen in PHACES, va …
The predominantly cerebellar malformations include predominantly vermian hypoplasia seen in Dandy-Walker malformation and rhombencephalosyna …
Cochlear implantation in a 16-month-old with Chudley-McCullough Syndrome.
Kalil G, Barrera S, Elkins A, Grillis A, Carron J. Kalil G, et al. Am J Otolaryngol. 2022 Jul-Aug;43(4):103487. doi: 10.1016/j.amjoto.2022.103487. Epub 2022 May 6. Am J Otolaryngol. 2022. PMID: 35569212
OBJECTIVE: The purpose of this report is to describe a case of bilateral cochlear implantation (CI) in a pediatric patient with Chudley-McCullough Syndrome (CMS). By reviewing the literature, we hope to describe common clinical presentations to aid in early d …
OBJECTIVE: The purpose of this report is to describe a case of bilateral cochlear implantation (CI) in a pediatric patient with Chudley …
GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.
Doherty D, Chudley AE, Coghlan G, Ishak GE, Innes AM, Lemire EG, Rogers RC, Mhanni AA, Phelps IG, Jones SJ, Zhan SH, Fejes AP, Shahin H, Kanaan M, Akay H, Tekin M; FORGE Canada Consortium; Triggs-Raine B, Zelinski T. Doherty D, et al. Am J Hum Genet. 2012 Jun 8;90(6):1088-93. doi: 10.1016/j.ajhg.2012.04.008. Epub 2012 May 10. Am J Hum Genet. 2012. PMID: 22578326 Free PMC article.
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of the clinically well-established Chudley-McCullough syndrome (CMS). Although not always reported in the literature, fro …
Autosomal-recessive inheritance, severe to profound sensorineural hearing loss, and partial agenesis of the corpus callosum are hallmarks of …
GPSM2 mutations in Chudley-McCullough syndrome.
Diaz-Horta O, Sirmaci A, Doherty D, Nance W, Arnos K, Pandya A, Tekin M. Diaz-Horta O, et al. Am J Med Genet A. 2012 Nov;158A(11):2972-3. doi: 10.1002/ajmg.a.35636. Epub 2012 Sep 14. Am J Med Genet A. 2012. PMID: 22987632 Free PMC article. No abstract available.
A novel nonsense GPSM2 mutation in a Yemeni family underlying Chudley-McCullough syndrome.
Hamzeh AR, Nair P, Mohamed M, Saif F, Tawfiq N, Al-Ali MT, Bastaki F. Hamzeh AR, et al. Eur J Med Genet. 2016 Jun;59(6-7):337-41. doi: 10.1016/j.ejmg.2016.05.006. Epub 2016 May 11. Eur J Med Genet. 2016. PMID: 27180139
Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome (CMS), which is characterized by profound congenital sensorineural hearing loss with various abnormalities in the brain. ...
Mutations in the G Protein Signaling Modulator 2 (GPSM2) cause the autosomal recessive disorder Chudley-McCullough syndrome …