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

American Journal of Medical Genetics. Part a
Fabio MatteucciFrancesco Ursino

Abstract

We describe an Italian family in which two sisters have macrocephaly due to hydrocephalus, and sensorineural hearing loss in addition to other brain abnormalities demonstrated by Magnetic resonance imaging (MRI). The girls, born to healthy non-consanguineous parents, have borderline psychomotor development delay (probably due to hearing defect) and minor dysmorphisms. The clinical picture fits the Chudley-McCullough syndrome, an autosomal recessive condition, to date described in only five families. Our data, in particular the neuroradiological findings, include all brain anomalies variably reported in previous works (hydrocephalus, corpus callosum partial agenesis, interhemispheric cyst, cerebral and cerebellar cortex dysplasia), thus illustrating the full phenotype of the syndrome.

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Citations

Oct 27, 2007·Child's Nervous System : ChNS : Official Journal of the International Society for Pediatric Neurosurgery·Trimurti D NadkarniAtul Goel
May 18, 2016·European Journal of Medical Genetics·Abdul Rezzak HamzehFatma Bastaki
Jun 18, 2016·American Journal of Medical Genetics. Part a·Teresa ChapmanDan Doherty
Mar 19, 2008·American Journal of Medical Genetics. Part a·Noelle C OrtonN Torben Bech-Hansen
Mar 26, 2019·Cochlear Implants International·Francesca ForliStefano Berrettini
Mar 16, 2013·American Journal of Medical Genetics. Part a·Rowida AlmomaniGijs W E Santen
Dec 14, 2018·Journal of Clinical Imaging Science·Meltem Özdemir, Alper Dilli
May 15, 2012·American Journal of Human Genetics·Dan DohertyTeresa Zelinski

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