Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
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.
Sivasli
O
O
Tepecik Training and Research Hospital, Division of Neonatology, 35200, Yenisehir, Izmir, Turkey.
Ozer
E A
EA
Ozer
A
A
Aydinlioglu
H
H
Helvaci
M
M
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D020863:Central Nervous System Cysts / Q000175:diagnosis / Q000235:genetics*; D002540:Cerebral Cortex / Q000002:abnormalities*; D002869:Chromosome Aberrations; D002972:Cleft Palate / Q000175:diagnosis / Q000235:genetics*; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005808:Genes, Recessive; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics*; D013576:Syndactyly / Q000175:diagnosis / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*