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Egyptian Journal of Medical Human Genetics

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Case Report: Trigonocephaly and Dandy walker variant in an Egyptian child – Probable mild Opitz trigonocephaly C syndrome

RM Shawky, HS Abd-Elkhalek

Abstract


We report a one year old male patient with slight upward slanting palpebral fissures, hypotelorism, bulbous nose, high arched narrow palate, low set ears, bilateral partial simian creases, short neck with loose skin over it, thick ridge over the metopic suture giving a trigonocephaly, brachycephaly shape to the skull, hypoplastic scrotum and bilateral undescended testes, and mild generalised hypotonia. Although most of the reported cases suffered from severe mental retardation, our patient had mild mental retardation. CT of the brain demonstrated Dandy walker variant and trigonocephaly. To our knowledge this anomaly was reported once before with Opitz trigonocephaly C syndrome (OTCS). We consider our patient as a mild form of OTCS and he needs close follow up because over time there may be a developmental delay, severe mental retardation and seizures.

Keywords: Dandy walker malformation – Dandy walker variant; Craniosynostosis; Trigonocephaly




http://dx.doi.org/10.1016/j.ejmhg.2011.10.003
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