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Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report.
Genet Couns. 2007; 18(2):247-50.GC

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.

Authors+Show Affiliations

Tepecik Training and Research Hospital, Division of Neonatology, 35200, Yenisehir, Izmir, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

17710878

Citation

Sivasli, O, et al. "Acro-cardio-facial Syndrome Associated With Neuroepithelial Cyst: a Case Report." Genetic Counseling (Geneva, Switzerland), vol. 18, no. 2, 2007, pp. 247-50.
Sivasli O, Ozer EA, Ozer A, et al. Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report. Genet Couns. 2007;18(2):247-50.
Sivasli, O., Ozer, E. A., Ozer, A., Aydinlioglu, H., & Helvaci, M. (2007). Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report. Genetic Counseling (Geneva, Switzerland), 18(2), 247-50.
Sivasli O, et al. Acro-cardio-facial Syndrome Associated With Neuroepithelial Cyst: a Case Report. Genet Couns. 2007;18(2):247-50. PubMed PMID: 17710878.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-cardio-facial syndrome associated with neuroepithelial cyst: a case report. AU - Sivasli,O, AU - Ozer,E A, AU - Ozer,A, AU - Aydinlioglu,H, AU - Helvaci,M, PY - 2007/8/23/pubmed PY - 2007/10/17/medline PY - 2007/8/23/entrez SP - 247 EP - 50 JF - Genetic counseling (Geneva, Switzerland) JO - Genet Couns VL - 18 IS - 2 N2 - 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. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/17710878/Acro_cardio_facial_syndrome_associated_with_neuroepithelial_cyst:_a_case_report_ L2 - https://medlineplus.gov/hydrocephalus.html DB - PRIME DP - Unbound Medicine ER -