Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report |
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Authors: | Sivasli O Ozer E A Ozer A Aydinlioglu H Helvaci M |
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Affiliation: | Tepecik Training and Research Hospital, Division of Neonatology, 35200, Yenisehir, Izmir, Turkey. |
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Abstract: | Acro-cardio-facial syndrome (ACFS) is a very rare genetic syndrome. Only 5 patients have been reported in the literature so far. A female neonate presented with limb abnormalities, cleft palate and congenital heart disease was diagnosed as ACFS. Her cranial magnetic resonance imaging revealed a huge cerebral neuroepithelial cyst. To our knowledge, this is the first case of ACFS in the literature associated with a neuroepithelial cyst in the brain. |
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