title: Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.
abstract: Rhombencephalosynapsis is a rare cerebellar malformation that can be associated with anomalies of the cerebral hemispheres and variable degrees of neurodevelopmental delay. A syndromic association, comprising rhombencephalosynapsis, developmental delay, scalp alopecia and trigeminal anaesthesia (Gomez-López-Hernández syndrome) has been described in seven individuals. We report the case of a 2-year-old boy with rhombencephalosynapsis, and review the evidence for a possible diagnosis of Gomez-López-Hernández syndrome. We also discuss other malformations reported in combination with rhombencephalosynapsis, and consider the possibility that a genetic aetiology for syndromic and nonsyndromic forms of rhombencephalosynapsis may be established with more detailed clinical and genetic studies.
authors.affiliation: Clinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK Our Lady's Hospital for Sick Children, Crumlin, Dublin, Ireland.
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowdin
authors.forename: Ethna
authors.initials: E
authors.lastname: Phelan
authors.forename: Rosemarie
authors.initials: R
authors.lastname: Watson
authors.forename: Kathryn M
authors.initials: KM
authors.lastname: McCreery
authors.forename: William
authors.initials: W
authors.lastname: Reardon
mesh_terms: D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D002658:Developmental Disabilities / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*; D007223:Infant; D008297:Male; D012249:Rhombencephalon / Q000002:abnormalities* / Q000473:pathology; D013577:Syndrome