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