Prenatal diagnosis of Chudley-McCullough syndrome

Am J Med Genet A. 2016 Sep;170(9):2426-30. doi: 10.1002/ajmg.a.37806. Epub 2016 Jun 17.


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.

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

Publication types

  • Case Reports

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis*
  • Arachnoid Cysts / diagnosis*
  • Brain / abnormalities
  • Family
  • Female
  • Genetic Counseling
  • Hearing Loss, Sensorineural / diagnosis*
  • Humans
  • Magnetic Resonance Imaging
  • Neuroimaging
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis*

Supplementary concepts

  • Chudley-Mccullough syndrome