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.
References
Aug 1, 1992·Journal of Medical Genetics·W Reardon
Jan 1, 1991·Annals of the New York Academy of Sciences·N E Morton
Jun 15, 1993·American Journal of Medical Genetics·M L MarazitaW E Nance
Jan 31, 1997·American Journal of Medical Genetics·A E ChudleyD W McCullough
Jan 31, 1998·Pediatrics·J A Mason, K R Herrmann
Mar 18, 1999·Pediatric Clinics of North America·L K Stein
Dec 23, 1999·American Journal of Medical Genetics·E G Lemire, G P Stoeber
Jan 8, 2000·Acta Paediatrica. Supplement·A Parving
Oct 9, 2001·Lancet·M TekinA Pandya
Apr 23, 2003·American Journal of Medical Genetics. Part a·Katherine Oelrich WelchArti Pandya
Aug 19, 2003·Ear and Hearing·Nathan Fischel-Ghodsian
Dec 18, 2003·American Journal of Medical Genetics. Part a·Elsebet ØstergaardKaren Brøndum-Nielsen
Feb 3, 2005·Hospital Medicine·R Aggarwal, S R Saeed
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