Frontonasal Malformation Diagnosis in the First Trimester: A Case Report

AbstractDifferent 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.
Source: Journal of Fetal Medicine - Category: Perinatology & Neonatology Source Type: research