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DOI: 10.1007/s40556-019-00221-x
Frontonasal Malformation Diagnosis in the First Trimester: A Case Report
Abstract
Different components of the face and the brain develop independently and ultimately unite at the midline. Disruptions in the development and fusion of craniofacial midline give rise to myriad of abnormalities broadly classified as frontonasal malformations. Here, we report a case diagnosed in the first trimester. The fetus had midline cleft of the face extending till forehead, cleft lip and palate, absent nasal tip and arhinia. There was associated alobar holoprosencephaly and polydactyly in all the four limbs. This case illustrates the importance of evaluation of facial profile, retronasal triangle and 3 D scanning at the time of first trimester screening.
Keywords
Frontonasal malformation - Median cleft face syndrome - Cleft lip and palate - First trimesterPublication History
Received: 19 July 2019
Accepted: 21 September 2019
Article published online:
08 May 2023
© 2019. Society of Fetal Medicine. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial-License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
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