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Frontonasal Malformation Diagnosis in the First Trimester: A Case Report

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Journal of Fetal Medicine

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.

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References

  1. Farlie PG, Baker NL, Yap P, Tan TY. Frontonasal dysplasia: towards an understanding of molecular and developmental etiology. Mol Syndromol. 2016;7:312–21.

    Article  CAS  Google Scholar 

  2. Sedano H, Gorlin R. Frontonasal malformation as a field defect and in syndromic associations. Oral Surg Oral Med Oral Pathol. 1988;65:704–10.

    Article  CAS  Google Scholar 

  3. Moore KL, Persaud TVN. The Developing Human (Philadelphia: W.B. Saunders). 2007.

  4. DeMyer W. The median cleft face syndrome: differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate. Neurology. 1967;17:961–71.

    Article  CAS  Google Scholar 

  5. Frontonasal Dysplasia. Genetics Home Reference. Last Update December 18, 2018. https://ghr.nlm.nih.gov/condition/frontonasal-dysplasia. Accessed 22 Dec 2018.

  6. Martinelli P, Russo R, Agangi A, Paladini D. Prenatal ultrasound diagnosis of frontonasal dysplasia. Prenatal Diagn. 2002;22:375–9. https://doi.org/10.1002/pd.287.

    Article  Google Scholar 

  7. Guion-Almeida ML, Richieri-Costa A, Saavedra D, Cohen MM. Fronto-nasal dysplasia: analysis of 21 cases and literature review. Int J Oral Maxifac Surg. 1996;25:91–7.

    Article  CAS  Google Scholar 

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Correspondence to Neha Gupta.

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Gupta, N. Frontonasal Malformation Diagnosis in the First Trimester: A Case Report. J. Fetal Med. 6, 201–204 (2019). https://doi.org/10.1007/s40556-019-00221-x

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  • DOI: https://doi.org/10.1007/s40556-019-00221-x

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