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Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.

Sivasli, O; Ozer, E A; Ozer, A; Aydinlioglu, H; Helvaci, M.

Genet Couns ; 18(2): 247-50, 2007.

Article in English | MEDLINE | ID: mdl-17710878

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.

Subject(s)

Abnormalities, Multiple/genetics , Central Nervous System Cysts/genetics , Cerebral Cortex/abnormalities , Cleft Palate/genetics , Craniofacial Abnormalities/genetics , Fingers/abnormalities , Heart Defects, Congenital/genetics , Hydrocephalus/genetics , Polydactyly/genetics , Syndactyly/genetics , Toes/abnormalities , Abnormalities, Multiple/diagnosis , Central Nervous System Cysts/diagnosis , Chromosome Aberrations , Cleft Palate/diagnosis , Craniofacial Abnormalities/diagnosis , Female , Genes, Recessive , Heart Defects, Congenital/diagnosis , Humans , Hydrocephalus/diagnosis , Infant, Newborn , Magnetic Resonance Imaging , Polydactyly/diagnosis , Syndactyly/diagnosis , Syndrome

ABSTRACT

Subject(s)

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