PubMed · 16400752
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Pat Hummel, Dana Fortado. 2005. A parents' guide to improving head shape.. https://pubmed.ncbi.nlm.nih.gov/16400752/
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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.
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