Document Detail

Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
MedLine Citation:
PMID:  17710878     Owner:  NLM     Status:  MEDLINE    
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.
O Sivasli; E A Ozer; A Ozer; H Aydinlioglu; M Helvaci
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Genetic counseling (Geneva, Switzerland)     Volume:  18     ISSN:  1015-8146     ISO Abbreviation:  Genet. Couns.     Publication Date:  2007  
Date Detail:
Created Date:  2007-08-22     Completed Date:  2007-10-16     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9015261     Medline TA:  Genet Couns     Country:  Switzerland    
Other Details:
Languages:  eng     Pagination:  247-50     Citation Subset:  IM    
Tepecik Training and Research Hospital, Division of Neonatology, 35200, Yenisehir, Izmir, Turkey.
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MeSH Terms
Abnormalities, Multiple / diagnosis,  genetics*
Central Nervous System Cysts / diagnosis,  genetics*
Cerebral Cortex / abnormalities*
Chromosome Aberrations
Cleft Palate / diagnosis,  genetics*
Craniofacial Abnormalities / diagnosis,  genetics*
Fingers / abnormalities*
Genes, Recessive
Heart Defects, Congenital / diagnosis,  genetics*
Hydrocephalus / diagnosis,  genetics*
Infant, Newborn
Magnetic Resonance Imaging
Polydactyly / diagnosis,  genetics*
Syndactyly / diagnosis,  genetics*
Toes / abnormalities*

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