Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report
Sivasli, O.; Ozer, E.A.; Ozer, A.; Aydinlioglu, H.; Helvaci, M.
Genetic Counseling 18(2): 247-250
2007
ISSN/ISBN: 1015-8146 PMID: 17710878 Document Number: 605885
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.