Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report
Journal Title: International Journal of Medical Research and Review - Year 2016, Vol 4, Issue 1
Abstract
We report a case of a 29 year old female. Ultrasound examination showed a fetus with: cleft lip and cleft palate, ocular hypertelorism, polydactyly and polycystic kidney. Amniocentesis was performed and the fetal chromosomal analysis indicated a normal cytogenetic female, karyotype: 46XX. Further genetic investigations were done. After genetical counseling the parents decided to terminate the pregnancy. The autopsy confirmed the ultrasound findings.
Authors and Affiliations
Dinu-Florin Albu, Cristina-Crenguta Albu, Stefan-Dimitrie Albu
Keywords
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- EP ID EP227500
- DOI 10.17511
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