Abstract
An: 2017, Nr.4, Articol Nr. 4
Title: 

MORPHOLOGICAL AND VOLUMETRIC ULTRASONOGRAPHIC EXAMINATION IN THE DIAGNOSTIC OF RARE FACIAL ANOMALIES. A CASE PRESENTATION

Authors: 

      Ana Haliciu, Allia Sindilar - University of Medicine and Pharmacy “Gr.T. Popa”, Iaşi, Department of Morphological Functions I; Obstetrics and Gynecology Hospital “Elena Doamna”, Iaşi
      Demetra Socolov, Al. Carauleanu - University of Medicine and Pharmacy “Gr.T. Popa”, Iaşi, Department of Mother and Child Medicine; Obstetrics and Gynecology Hospital “Cuza Vodă” Iaşi
      V. Gorduza - University of Medicine and Pharmacy “Gr.T. Popa”, Iaşi, Department of Mother and Child Medicine
      Simona Partene Vicoleanu - University of Medicine and Pharmacy “Gr.T. Popa”, Iaşi, Department of Morphological Functions I
      R. Socolov - Obstetrics and Gynecology Hospital “Elena Doamna”, Iaşi; University of Medicine and Pharmacy “Gr.T. Popa”, Iaşi, Department of Mother and Child Medicine
      MORPHOLOGICAL AND VOLUMETRIC ULTRASONOGRAPHIC EXAMINATION IN THE DIAGNOSTIC OF RARE FACIAL ANOMALIES. A CASE PRESENTATION (Abstract): Proboscis is a rare craniofacial anomaly, characterized by a rudimental tubular structure in the middle of the face. It is classified in 4 general types: holoprosencephalic, lateral nasal, supranumerary, and disruptive. Its presence could be associated to other anomalies, such as: trispomy 13, holoprosencephaly, etmocephaly, cyclopia. The ultrasound examination of the face should follow the nose-mouth coronal plane, the strictly sagittal plane for profile, and step by step axial sections for eyes, maxillary, tongue and mandibula. The volumetric 3D ultrasound scan can confirm the proboscis diagnostic and differentiate the anomaly from other facial abnormalities. Case report: We present a congenital abnormalities foetus with proboscis, alobar holoprosencephaly, hypotelorism, polyhydramnios, which was diagnosed prenatally using late morphological and volumetric scan at 32 weeks of gestation. A male foetus is extracted through cesarean section at 38 weeks, with a weight of 2850 grams, and Pagar score at 1 min 2-3. After birth, at 4 hours life, the foetus dies. The external anatomical evaluation confirmed the ultrasound anomalies as described. Further genetic analysis are under way to confirm a probable trisomy 13. In conclusion, the face examination is important in the diagnostic of congenital abnormalities. This requires a systematic and sometimes interdisciplinary approach. The profile analysis (forehead, nose, upper lip, chin) is a fast examination, that could warn the obstetrician regarding the possibility of an anomaly, and the use of standardized exam for sagittal section is essential.
Key words: PROBOSCIS, HOLOPROSENCEPHALY, 3D ULTRASOUND TRISOMY 13
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