Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report

  • Dr. Dinu-Florin Albu MD, PhD, Ass. Professor, Obstetrics Gynecology and Medical Genetics, Expert in Maternal-Fetal Ultrasound and Maternal-Fetal Medicine, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania and Alco San Clinic, Maternal-Fetal Medicine Dept., Bucharest, Romania
  • Dr. Cristina-Crenguta Albu MD, PhD, Ass. Professor, Ophthalmology and Medical Genetics, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania and Alco San Clinic, Maternal-Fetal Medicine Dept., Bucharest, Romania
  • Dr Stefan-Dimitrie Albu Medical Student, University of Medicine and Pharmacy Carol Davila, Bucharest, Romania and Alco San Clinic, Maternal-Fetal Medicine Dept., Bucharest, Romania
Keywords: Oral-Facial-Digital, syndrome, ultrasound, prenatal diagnosis, mutation

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.

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Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report
CITATION
DOI: 10.17511/ijmrr.2016.i01.018
Published: 2016-01-31
How to Cite
1.
Albu D-F, Albu C-C, Albu S-D. Importance of ultrasound investigation in the early prenatal diagnosis of an Oral-Facial-Digital Syndrome Type I: a new case report. Int J Med Res Rev [Internet]. 2016Jan.31 [cited 2024Mar.29];4(1):118-21. Available from: https://ijmrr.medresearch.in/index.php/ijmrr/article/view/440
Section
Case Report