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Clin Dysmorphol. 2007 Jan;16(1):21-5.

Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-López-Hernández syndrome.

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1
Clinical Genetics Unit, West Midlands Regional Genetics Service, Birmingham Women's Hospital, Birmingham, UK. sarah.bowdin@bwhct.nhs.uk

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.

[Indexed for MEDLINE]

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