Prenatal diagnosis of Chudley-McCullough syndrome.
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.
Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Teresa
T
Chapman
Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Francisco A
FA
Perez
Department of Radiology, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Gisele E
GE
Ishak
Department of Pediatrics, Seattle Children's Hospital, University of Washington, Seattle, Washington.
Dan
D
Doherty
D061085:Agenesis of Corpus Callosum / Q000175:diagnosis*; D016080:Arachnoid Cysts / Q000175:diagnosis*; D001921:Brain / Q000002:abnormalities; D005190:Family; D005260:Female; D005817:Genetic Counseling; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis*; D006801:Humans; D008279:Magnetic Resonance Imaging; D059906:Neuroimaging; D010641:Phenotype; D011247:Pregnancy; D011296:Prenatal Diagnosis
Chudley-McCullough syndrome; agenesis of corpus callosum; fetal MR; polymicrogyria; prenatal diagnosis; ventriculomegaly