Literature DB >> 27312216

Prenatal diagnosis of Chudley-McCullough syndrome.

Teresa Chapman1, Francisco A Perez1, Gisele E Ishak1, Dan Doherty2.   

Abstract

Chudley-McCullough syndrome (CMS) is an autosomal-recessive disorder characterized by a complex brain malformation and profound congenital sensorineural hearing loss. Postnatal brain imaging findings include ventriculomegaly, partial agenesis of corpus callosum, inferior cerebellar dysplasia, arachnoid cysts, and malformations of cortical development including frontal subcortical heterotopia and polymicrogyria. Prenatal diagnosis of CMS is important due to the markedly less severe neurodevelopmental prognosis compared to disorders with similar brain imaging findings. We report prenatal imaging features that help distinguish CMS from other disorders, including slit-like frontal horns, agenesis of the corpus callosum, frontal subcortical heterotopia, arachnoid cysts, and cerebellar dysplasia.
© 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Entities:  

Keywords:  Chudley-McCullough syndrome; agenesis of corpus callosum; fetal MR; polymicrogyria; prenatal diagnosis; ventriculomegaly

Mesh:

Year:  2016        PMID: 27312216      PMCID: PMC8210655          DOI: 10.1002/ajmg.a.37806

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


  14 in total

1.  Chudley-McCullough syndrome: bilateral sensorineural deafness, hydrocephalus, and other structural brain abnormalities.

Authors:  E G Lemire; G P Stoeber
Journal:  Am J Med Genet       Date:  2000-01-17

Review 2.  Chudley-McCullough syndrome: another report and a brief review of the literature.

Authors:  Ismail Alrashdi; Robert Barker; Michael A Patton
Journal:  Clin Dysmorphol       Date:  2011-04       Impact factor: 0.816

3.  Bilateral sensorineural deafness and hydrocephalus due to foramen of Monro obstruction in sibs: a newly described autosomal recessive disorder.

Authors:  A E Chudley; C McCullough; D W McCullough
Journal:  Am J Med Genet       Date:  1997-01-31

Review 4.  MRI of the Fetal Brain.

Authors:  C Weisstanner; G Kasprian; G M Gruber; P C Brugger; D Prayer
Journal:  Clin Neuroradiol       Date:  2015-06-11       Impact factor: 3.649

Review 5.  The fundamentals of fetal magnetic resonance imaging: Part 2.

Authors:  Matthew R Plunk; Teresa Chapman
Journal:  Curr Probl Diagn Radiol       Date:  2014-06-25

6.  Sensorineural deafness, hydrocephalus and structural brain abnormalities in two sisters: the Chudley-McCullough syndrome.

Authors:  Fabio Matteucci; Enrico Tarantino; Maria Cristina Bianchi; Cristina Cingolani; Bruno Fattori; Andrea Nacci; Francesco Ursino
Journal:  Am J Med Genet A       Date:  2006-06-01       Impact factor: 2.802

Review 7.  Chudley-McCullough syndrome: case report and review of the neuroimaging spectrum.

Authors:  Thomas Kau; Dorothe Veraguth; Heinrich Schiegl; Ianina Scheer; Eugen Boltshauser
Journal:  Neuropediatrics       Date:  2012-03-19       Impact factor: 1.947

8.  Brothers with Chudley-McCullough syndrome: sensorineural deafness, agenesis of the corpus callosum, and other structural brain abnormalities.

Authors:  Elsebet Østergaard; Vibeke Faurholt Pedersen; Elisabeth B Skriver; Karen Brøndum-Nielsen
Journal:  Am J Med Genet A       Date:  2004-01-01       Impact factor: 2.802

9.  GPSM2 mutations in Chudley-McCullough syndrome.

Authors:  Oscar Diaz-Horta; Asli Sirmaci; Dan Doherty; Walter Nance; Kathleen Arnos; Arti Pandya; Mustafa Tekin
Journal:  Am J Med Genet A       Date:  2012-09-14       Impact factor: 2.802

10.  GPSM2 mutations cause the brain malformations and hearing loss in Chudley-McCullough syndrome.

Authors:  Dan Doherty; Albert E Chudley; Gail Coghlan; Gisele E Ishak; A Micheil Innes; Edmond G Lemire; R Curtis Rogers; Aizeddin A Mhanni; Ian G Phelps; Steven J M Jones; Shing H Zhan; Anthony P Fejes; Hashem Shahin; Moien Kanaan; Hatice Akay; Mustafa Tekin; Barbara Triggs-Raine; Teresa Zelinski
Journal:  Am J Hum Genet       Date:  2012-05-10       Impact factor: 11.025

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.