Premium
Prenatal diagnosis of Chudley–McCullough syndrome
Author(s) -
Chapman Teresa,
Perez Francisco A.,
Ishak Gisele E.,
Doherty Dan
Publication year - 2016
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37806
Subject(s) - polymicrogyria , agenesis of the corpus callosum , corpus callosum , ventriculomegaly , heterotopia (medicine) , lissencephaly , corpus callosum agenesis , cerebellar hypoplasia (non human) , cortical dysplasia , medicine , agenesis , pathology , dysplasia , schizencephaly , prenatal diagnosis , anatomy , cerebellum , magnetic resonance imaging , fetus , radiology , pregnancy , biology , biochemistry , genetics , gene
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.