Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome

    December 2006 in “ Clinical dysmorphology ”
    Sarah Bowdin, Ethna Phelan, Rosemarie Watson, Kathryn McCreery, William Reardon
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    TLDR A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
    The document discusses the case of a 2-year-old boy diagnosed with rhombencephalosynapsis, a rare cerebellar malformation, and explores the potential diagnosis of Gomez–López-Hernández syndrome, which is characterized by rhombencephalosynapsis, developmental delay, scalp alopecia, and trigeminal anaesthesia. This syndrome had previously been described in seven individuals. The paper reviews other malformations that have been reported in conjunction with rhombencephalosynapsis and suggests that future detailed clinical and genetic studies may help establish a genetic cause for both syndromic and nonsyndromic forms of the condition.
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